Glossary for Developmental problems

Medical terms related to Developmental problems or mentioned in this section include:

• +r(1) and +r(16): A very rare chromosomal disorder where some of the body's cells has extra ring chromosomes of chromosome 1 and chromosome 16.
• $10q Partial Trisomy$: A very rare genetic disorder characterized by the duplication of genetic material from the long arm (q) of chromosome 10 - the genetic material occurs three times in body cells instead of the normal two. The type and severity of symptoms may vary considerably depending on the exact location and size of the duplicated genetic material.
• $14q+ syndrome$: A rare chromosomal disorder involving duplication of genetic material from the long arm (q) of chromosome 14 resulting in various abnormalities.
• $18p minus syndrome$: A rare chromosomal disorder where a portion of chromosome 18 is missing which is characterized by mental and growth deficiencies, drooping upper eyelid and prominent ears. The type and severity of symptoms is determined by the amount of genetic material that is missing.
• $1q deletion$: A rare chromosomal disorder where part of the long arm (q) of chromosome 1 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
• $2-Hydroxyglutaricaciduria$: A rare metabolic disorder characterized by high levels of a certain chemical (2-Hydroxyglutaric) which causes a serious progressive neurological disease and damage to the brain. The features of this disorder are variable and some cases are milder than others.
• $2-Methylbutyric Aciduria$: A very rare genetic disorder where an enzyme deficiency prevents the break down of certain proteins into energy and results in a harmful accumulation of acids in the blood and body tissues. More specifically, there is a deficiency of an enzyme (2-methylbutyryl-coenzyme A dehydrogenase) needed to convert the amino acid isoleucine into energy. 2-methylbutyrylglycine levels build up in the body and may cause damage. Symptoms vary according to the degree of enzyme deficiency - can range from asymptomatic to life-threatening.
• $2-methylbutyryl-coenzyme A dehydrogenase deficiency$: A very rare genetic disorder where an enzyme deficiency prevents the break down of certain proteins into energy and results in a harmful accumulation of acids in the blood and body tissues. More specifically, there is a deficiency of an enzyme (2-methylbutyryl-coenzyme A dehydrogenase) needed to convert the amino acid isoleucine into energy. 2-methylbutyrylglycine levels build up in the body and may cause damage. Symptoms vary according to the degree of enzyme deficiency - can range from asymptomatic to life-threatening.
• $22q11.2 deletion syndrome$: A rare genetic disorder caused by the absence of a small portion of genetic material. A small section of chromosome 22 is missing at a location called q11.2. Chromosome 22 is one of 23 pairs of chromosomes that exist in humans.
• $2q deletion$: A rare chromosomal disorder where part of the long arm (q) of chromosome 2 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
• $3-Hydroxyisobutyric aciduria$: A rare inborn metabolic disorder which causes brain and facial anomalies, seizures and growth problems.
• $3-M Syndrome$: A rare genetic condition which is characterized by distinctive physical features and severe growth retardation that starts during the fetal stage. Intelligence is not affected.
• $3-alpha-Hydroxyacyl-CoA Dehydrogenase Deficiency$: A rare inherited form of biochemical disorder characterized by the deficiency of a particular enzyme (3-Hydroxyacyl-CoA Dehydrogenase). The enzyme deficiency only affects certain body tissues, in particular the skeletal muscles. The lack of enzyme activity prevents some fats being converted into energy. Symptoms tend to be exacerbated during fasting as during fasting, the body tries to rely more heavily on fats for energy. Fatty acids that are not completely metabolized due to the enzyme deficiency may build up in various organs and cause serious complications.
• $3-alpha-hydroxyacyl-coenzyme A dehydrogenase deficiency$: A rare inherited form of biochemical disorder characterized by the deficiency of a particular enzyme (3-Hydroxyacyl-CoA Dehydrogenase). The enzyme deficiency only affects certain body tissues, in particular the skeletal muscles. The lack of enzyme activity prevents some fats being converted into energy. Symptoms tend to be exacerbated during fasting as during fasting, the body tries to rely more heavily on fats for energy. Fatty acids that are not completely metabolized due to the enzyme deficiency may build up in various organs and cause serious complications.
• $3-alpha-hydroxyisobutyryl-CoA hydrolase deficiency$: A metabolic disorder involving an enzyme deficiency which causes symptoms such as degeneration of the nervous system. The other features of the disorder are somewhat variable.
• $3-methylglutaconic aciduria, type V$: A rare genetic disorder where the body's cells are unable to make sufficient energy resulting in an accumulation in the body of 3-methylglutaconic acid.
• $3q deletion$: A rare chromosomal disorder where part of the long arm (q) of chromosome 3 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
• $46,XX chromosome 7 deletion p13$: A chromosomal disorder where a small portion of chromosome 7 is deleted which results in a range of abnormalities.
• $47 XYY syndrome$: A genetic condition where males have an extra Y chromosome in each of their cells. Normally male cells have one X and one Y chromosome. This is not usually an inherited condition but a defect that occurs during cell division. Often the condition is asymptomatic.
• $47,XXX syndrome$: A genetic condition where females have an extra X chromosome in each of their cells. Normally female cells have two X chromosomes. This is not usually an inherited condition but a defect that occurs during cell division. Often the condition is asymptomatic.
• $4p16.3 deletion$: A rare genetic disorder where a portion of chromosome 4 is deleted at a location called 16.3. The condition is characterized by malformations in most parts of the body as the deletion affects growth and development of the fetus.
• $7p2 Monosomy Syndrome$: A rare chromosomal disorder where there is one copy of the end of the short arm (p) of chromosome 7 rather than the normal two. The type and severity of symptoms is determined by the location and size of the genetic material deleted.
• $8p-Syndrome, partial$: A rare chromosomal disorder where there is one copy of part of the short arm (p) of chromosome 8 rather than the normal two. The type and severity of symptoms is determined by the location and size of the genetic material deleted.
• ACAD8 deficiency: An extremely rare metabolic disorder where the body is unable to metabolize certain proteins properly. More specifically, an insufficient level of the enzyme (isobutyryl-coenzyme A dehydrogenase) needed to metabolize the amino acid valine. The onset and severity of symptoms is variable.
• ACE Inhibitors - Teratogenic Agent: There is strong evidence to indicate that the use of ACE Inhibitors during pregnancy may cause a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• AIDS dysmorphic syndrome: A rare syndrome involving craniofacial anomalies and developmental delay that occurs in infants infected with AIDS during the fetal stage.
• AREDYLD: A rare condition characterized by abnormalities of the extremities, teeth, hair, nail and kidney as well as lipoatrophic diabetes.
• ARTS syndrome: A rare lethal syndrome characterized by deafness, optic atrophy and ataxia.
• Aarskog Syndrome: A rare genetic condition characterized by facial, hand, genital and growth abnormalities.
• Abderhalden-Kaufmann-Lignac syndrome: A rare inherited childhood disorder involving deposits of cystine crystals in various parts of the body, especially the conjunctiva and cornea.
• Absence of septum pellucidum and septo-optic dysplasia: A rare birth defect where a thin membrane in the middle of the brain is missing. This brain abnormality is never present on it's own but is a characteristic of septo-optic dysplasia where the patient also has optic disk abnormalities and pituitary deficiencies.
• Absent patellae - scrotal hypoplasia - renal anomalies - facial dysmorphism - mental retardation: A rare syndrome characterized by absent kneecaps, underdeveloped scrotum, kidney anomalies, unusual facial appearance and mental retardation.
• Abuse dwarfism syndrome: Retarded growth, intelligence and social behavior due to child abuse. The child abuse can take the form of mental or physical cruelty or neglect.
• Acanthocytosis: A rare disorder where most of the red blood cells are abnormal with spiny projections due to lipid abnormalities. The blood abnormality is seen in conditions such as abetalipoproteinemia, severe liver disease and severe malnutrition. Symptoms and prognosis depend on the underlying disorder.
• Achalasia - adrenal - alacrima syndrome: A familial disorder characterized by adrenal gland-related hormonal problems, swallowing difficulty (achalasia) and a lack of tears (alacrima). Neurological impairment and motor and sensory neuropathy is progressive. The adrenal glands in patients are resistant to the ACTH hormone and hence fails to operate normally.
• Acidosis: The accumulation of hydrogen ions or the depletion of the alkaline reserve in the body.
• Acrocallosal syndrome: A rare genetic disorder characterized by underdeveloped or absent corpus callosum of brain, duplication of thumb or big toe and extra fingers or toes.
• Acrocephalopolysyndactyly, type 2 (ACPS 2): A rare genetic disorder characterized by premature closing of skull bones, craniofacial abnormalities, heart defects, growth retardation and other disorders.
• Acrocephalosyndactyly type 3 (ACPS 3): A rare genetic disorder characterized by premature joining of certain skull bones during development which has an impact on the shape of the head and face. Features include brachycephaly, ear deformities as well as craniofacial, finger and bone abnormalities.
• Acrodysostosis: A rare genetic disorder characterized by short hands, small nose, mental deficiency and hand and foot deformities.
• Acrofacial dysostosis Catania form: One of a group of disorders characterized by defective limb and facial development. The Catania form is very rare.
• Acrofacial dysostosis Rodriguez type: One of a group of disorders characterized by defective limb and facial development. The Rodriguez type is very rare and primarily involves severe limb and organ malformations.
• Acrofacial dysostosis autosomal recessive: A rare inherited disorder characterized mainly by facial, hand and foot anomalies. The disorder resembles Nager syndrome.
• Acrofacial dysostosis postaxial, atypical: A rare disorder characterized by an unusual facial appearance, short stature and hand and foot bone anomalies. The disorder may be related to the fact that the infants were born to mothers with diabetes.
• Acromesomelic dysplasia: A rare genetic progressive skeletal disorder characterized by short limbs, a large head and lower thoracic kyphosis.
• Acrorenal mandibular syndrome: A very rare condition characterized by a split hand or foot deformity, kidney abnormalities and underdeveloped lower jaw.
• Acyl-CoA dehydrogenase, short chain, deficiency of: A rare disorder where the body lacks enzymes needed to convert some fats (short-chain fatty acids) into energy. Symptoms are exacerbated by fasting or acute illness. The severity of symptoms is variable with some patients remaining virtually asymptomatic their whole life while other suffer symptoms from infancy.
• Adams-Oliver Syndrome: A very rare inherited disorder characterized by scalp, skull and limb abnormalities. The range and severity of the symptoms can vary greatly from mild to severe.
• Adenylosuccinate lyase deficiency: A rare inherited disorder characterized by a deficiency of the enzyme called adenlyosuccinate lyase which generally results in psychomotor retardation and autistic behavior.
• Adrenal Cancer: A malignant cancer that develops in the adrenal gland. The tumor may be nonfunctioning (does not produce hormones) or functioning in which case excessive levels of hormones can cause a variety of symptoms depending on which hormone is involved. Adrenal hormones made in the cortex (outer part of the gland) are aldosterone, corticosteroids and androgenic steroids. Adrenalin and noradrenalin are the hormones made in the medulla (central part of the adrenal gland).
• Adrenal Cortex Neoplasms: A tumor that develops in the adrenal gland. The tumor may be nonfunctioning (does not produce hormones) or functioning in which case excessive levels of hormones can cause a variety of symptoms depending on which hormone is involved. Adrenal hormones made in the cortex (outer part of the gland) are aldosterone, corticosteroids and androgenic steroids.
• Adrenal adenoma, familial: A benign tumor that develops in the adrenal gland and tends to run in families. The tumor may be nonfunctioning (does not produce hormones) or functioning in which case excessive levels of hormones can cause a variety of symptoms depending on which hormone is involved. Adrenal hormones made in the cortex (outer part of the gland) are aldosterone, corticosteroids and androgenic steroids . Adrenalin and noradrenalin are the hormones made in the medulla (central part of the adrenal gland).
• Adrenal gland hyperfunction: Excessive activity of the adrenal gland which causes excessive production of one or more adrenal hormones (aldosterone, corticosteroids, androgenic steroids, epinephrine and norepinephrine). The increased adrenal gland activity may be caused by an adrenal gland tumor or by excessive stimulation of the gland. Pituitary hormones stimulate adrenal gland activity.
• Adrenal hyperplasia, congenital type 3: A group of disorders that occur when a deficiency of 21-hydroxylase impairs the normal process of making adrenal corticosteroids. The severity of the condition is variable depending on the degree of deficiency.
• Adrenal incidentaloma: A tumor of the adrenal gland that is discovered incidentally while performing an imaging examination for reasons other than an adrenal tumor. The tumor may be asymptomatic or can causes excessive secretion of adrenal hormones and resulting symptoms. The tumor may also be malignant or benign.
• Adrenocortical carcinoma: A condition which is characterized by malignancy which affects the adrenocortex.
• Agammaglobulinemia - microcephaly - craniosynostosis - severe dermatitis: A rare disorder characterized by a small head, agammaglobuliemia and severe dermatitis.
• Agammaglobulinemia, microcephaly, and severe dermatitis: A rare disorder characterized by a small head, agammaglobuliemia and severe dermatitis.
• Agenesis of the corpus callosum: Congenital absence of connective part of the brain.
• Aging: The medical conditions from getting older.
• Al Gazali - Nair syndrome: A very rare syndrome characterized by bone abnormalities, eye problems, seizures and developmental delay. The reported cases involved related parents.
• Al Murrah-induced lead poisoning: Al Murrah is a folk remedy used mainly by Saudi Arabian people to treat problems such as stomach pain, diarrhea and colic. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
• Alagille syndrome: A genetic disorder affecting the liver and characterized by the absence of some or all of the liver bile ducts that transport bile within the liver.
• Alarcon-induced lead poisoning: Alarcon is a folk remedy used mainly by Mexican people to treat digestive or stomach problems including indigestion and diarrhea. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
• Albayaidle-induced lead poisoning: Albayaidle is a folk remedy used mainly by Mexican and Central American people to treat digestive or stomach problems such as vomiting and colic. It is also used to treat apathy and lethargy. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
• Albayalde-induced lead poisoning: Albayalde is a folk remedy used mainly by Mexican and Central American people to treat digestive or stomach problems such as vomiting and colic. It is also used to treat apathy and lethargy. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
• Albers-Schonberg disease - malignant recessive form: A rare disorder characterized primarily by increased bone density as old bone is not resorbed and replaced with new bone - is also known as marble bone disease. The malignant infantile form is the most severe form of this disorder and death usually occurs in the first decade of life.
• Alcohol - Teratogenic Agent: There is strong evidence to indicate that exposure to Alcohol during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Alcohol intoxication: excess intake of alcohol can lead to serious consequences
• Alcohol use: Use of alcohol (as a symptom)
• Alopecia - hypogonadism - extrapyramidal disorder: A rare syndrome characterized by alopecia, progressive movement problems and a lack of gonadal function which affects puberty.
• Alopecia - macular degeneration - growth retardation: A rare syndrome characterized mainly by repeated loss of hair, retarded growth and degeneration of the macula of the eye.
• Alopecia-contractures-dwarfism-mental retardation: A rare syndrome characterized primarily by mental retardation, short stature, lack of hair and contractures.
• Alpers Syndrome: A rare syndrome characterized by liver disease, seizures and progressive, episodic psychomotor retardation.
• Alpha thalassemia: Thalassemia is an inherited blood disorder characterized by abnormal synthesis of hemoglobin. Hemoglobin consists of two main protein chains called ? and ?. Alpha thalassemia involves defects in one or more of the four genes required to make each ? protein chain. The main symptom is anemia, the severity of which can vary amongst patients depending on how many defective genes are involved.
• Alpha thalassemia - Hemoglobin H disease: Thalassemia is an inherited blood disorder characterized by abnormal synthesis of hemoglobin. Hemoglobin consists of two main protein chains called ? and ?. Hemoglobin H disease involves defects in three of the four genes required to make each ? protein chain. The main symptom is moderate to severe anemia.
• Alpha thalassemia major: Thalassemia is an inherited blood disorder characterized by abnormal synthesis of hemoglobin. Hemoglobin consists of two main protein chains called ? and ?. Alpha thalassemia major is very rare involves defects in all of the four genes required to make each ? protein chain. The condition leads to infant death before or soon after birth.
• Alport Syndrome: A rare hereditary disorder involving the progressive deterioration of parts of the kidney resulting in chronic kidney disease.
• Alsing syndrome: A rare syndrome characterized mainly by kidney problems, skeletal abnormalities and a hole in the coloboma of the eye.
• Alzheimer disease 10: An inherited form of Alzheimer's. Type 10 is caused by a genetic defect on chromosome 10p13.
• Alzheimer disease 12: An inherited form of Alzheimer's. Type 12 is caused by a genetic defect on chromosome 8p12-q22.
• Alzheimer disease 13: An inherited form of Alzheimer's disease that is linked to a defect on chromosome 1q21. Alzheimer's disease is a progressive disorder involving degeneration of the brain. The disease mainly affects brain functions involving thinking, memory, personality and behaviour.
• Alzheimer disease 14: An inherited form of Alzheimer's disease that is linked to a defect on chromosome 1q25. Alzheimer's disease is a progressive disorder involving degeneration of the brain. The disease mainly affects brain functions involving thinking, memory, personality and behaviour.
• Alzheimer disease 15: An inherited form of Alzheimer's disease that is linked to a defect on chromosome 3q22-q24. Alzheimer's disease is a progressive disorder involving degeneration of the brain. The disease mainly affects brain functions involving thinking, memory, personality and behaviour.
• Alzheimer disease 16: Alzheimer disease 16 (late-onset) is a form of Alzheimer's disease that is linked to a defect on chromosome Xq21.3. Alzheimer's disease is a progressive disorder involving degeneration of the brain. The disease mainly affects brain functions involving thinking, memory, personality and behaviour.
• Alzheimer disease 2, late-onset: Alzheimer disease 2 (late-onset) is a form of Alzheimer's disease that is linked to a defect on chromosome 19q13.2. Alzheimer's disease is a progressive disorder involving degeneration of the brain. The disease mainly affects brain functions involving thinking, memory, personality and behaviour.
• Alzheimer disease 3, (early-onset Alzheimer disease): Alzheimer disease 3 is an early-onset form of Alzheimer's disease that is linked to a defect on chromosome 14q24.3. Alzheimer's disease is a progressive disorder involving degeneration of the brain. The disease mainly affects brain functions involving thinking, memory, personality and behaviour.
• Alzheimer disease 5: An inherited form of Alzheimer's. Type 5 has a late onset and is caused by a genetic defect on chromosome 12p11.
• Alzheimer disease 6: A genetic form of Alzheimer's. Type 6 has a late onset and is caused by a genetic defect on chromosome 10q24.
• Alzheimer disease 7: An inherited form of Alzheimer's. Type 7 is caused by a genetic defect on chromosome 10p13.
• Alzheimer disease 8: An inherited form of Alzheimer's. Type 8 is caused by a genetic defect on chromosome 20p.
• Alzheimer disease 9: A genetic form of Alzheimer's. Type 9 has a late onset and is caused by a genetic defect on chromosome 19p13.2.
• Alzheimer disease, early-onset, with cerebral amyloid angiopathy: An early-onset form of Alzheimer's disease that is linked to a defect on chromosome 21q21. Alzheimer's disease is a progressive disorder involving degeneration of the brain. The disease mainly affects brain functions involving thinking, memory, personality and behaviour.
• Alzheimer disease, familial, 1: An inherited form of Alzheimer's disease that is linked to a defect on chromosome 21q. Alzheimer's disease is a progressive disorder involving degeneration of the brain. The disease mainly affects brain functions involving thinking, memory, personality and behaviour.
• Alzheimer disease, familial, 11: An inherited form of Alzheimer's disease that is linked to a defect on chromosome 9p22.1. Alzheimer's disease is a progressive disorder involving degeneration of the brain. The disease mainly affects brain functions involving thinking, memory, personality and behaviour.
• Alzheimer disease, familial, 3, with spastic paraparesis and apraxia: This form of Alzheimer's is an early-onset form of Alzheimer's that is linked to a defect on chromosome 14q24.3. It is characterized by features which are atypical for Alzheimer's - spastic paraparesis which occurs before the dementia symptoms and apraxia. Alzheimer's disease is a progressive disorder involving degeneration of the brain. The disease mainly affects brain functions involving thinking, memory, personality and behaviour.
• Alzheimer disease, familial, 3, with spastic paraparesis and unusual plaques: This form of Alzheimer's is an early-onset form of Alzheimer's that is linked to a defect on chromosome 14q24.3. It is characterized by features which are atypical for Alzheimer's - spastic paraparesis which occurs before the dementia symptoms and unusual plaques in the brain. Alzheimer's disease is a progressive disorder involving degeneration of the brain. The disease mainly affects brain functions involving thinking, memory, personality and behaviour.
• Alzheimer disease, familial, 4: An inherited form of Alzheimer's disease that is linked to a defect on chromosome 1q31-q42. Alzheimer's disease is a progressive disorder involving degeneration of the brain. The disease mainly affects brain functions involving thinking, memory, personality and behaviour.
• Alzheimer's disease: A progressive degenerative disease of the brain of unknown cause
• Amelo-cerebro-hypohidrotic syndrome: A rare syndrome involving degeneration of the central nervous system, seizures and abnormal tooth development.
• Amiloride - Teratogenic Agent: There is strong evidence to indicate that exposure to Amiloride during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Aminoacidopathies: Any of a group of inborn errors of metabolism which results in the build up in the body of one or more amino acids in the blood and/or urine. The range and severity of symptoms is hugely variable.
• Aminopterin - Teratogenic Agent: There is strong evidence to indicate that exposure to ? during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Amphetamine - Teratogenic Agent: There is strong evidence to indicate that exposure to Amphetamine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Amyloidosis, familial cutaneous: Amyloidosis involves the abnormal deposit of a substance called amyloid in various parts of the body. The familial cutaneous form is characterized by brown skin pigmentation as well as systemic symptoms such as failure to thrive, developmental delay, gastrointestinal problems and pneumonia.
• Anemia of pregnancy: Anemia of pregnancy is anemia that occurs during pregnancy. Women's bodies have a greater demand for iron during pregnancy and if intake is not sufficient, anemia can result. Anemia in pregnant women can lead to infant problems such as premature birth, fetal death, retarded growth and other problems.
• Anemia, Blackfan Diamond: Diamond-Blackfan anemia is a rare genetic condition where the bone marrow is unable to make sufficient red blood cells which leads low levels of red blood cells. There are eight subtypes of the condition which differ in the location of the genetic defect and the incidence of additional symptoms such as malformations. The severity of symptoms is variable but most cases are serious.
• Angelman syndrome: A rare genetic disorder characterized by a puppet-like gait, fits of laughter and characteristic facial features.
• Angelman-Like Syndrome, X-linked: A very rare syndrome characterized mainly by mental retardation, mutism, facial anomalies, epilepsy and weak eye muscles. Males tended to have severe mental retardation whereas female carriers had mild or no mental retardation. Patients do eventually walk but then often lose this ability by the age of 10 years. Female carriers tend to have mild symptoms and males have severe symptoms - symptoms are variable to some degree.
• Angiofollicular lymph hyperplasia: A rare disorder of the lymph system characterized by the development of benign tumors in lymph tissue anywhere in the body.
• Ankylosis - facial anomalies - pulmonary hypoplasia syndrome: A rare familial syndrome characterized mainly by fused or stiff joints, facial anomalies and underdeveloped lungs.
• Anophthalmia - megalocornea - cardiopathy - skeletal anomalies: A rare genetic syndrome characterized by absent or very small eyes, large corneas, congenital heart defects and skeletal abnormalities.
• Anterior Segment Anomalies of the Eye, Growth Retardation associated with Hypoplastic Pituitary Gland and Endocrine Abnormalities: A very rare condition characterized by the association of eye anomalies, retarded growth and pituitary and endocrine gland abnormalities. The parents of the affected children were related.
• Aortic supravalvular stenosis: A rare congenital condition involving increased intestinal calcium absorption and characterized by development delay, distinctive facial features, small nails and short stature.
• Aphasia: inability to produce and comprehend language
• Apparent Mineralocorticoid Excess, type 2: A form of inherited high blood pressure that starts during early childhood. The condition is caused by a genetic defect which results in an inborn error of metabolism of peripheral cortisol. Type 2 causes similar symptoms to type 1 but the urinary steroid levels are different.
• Apparent mineralocorticoid excess: A form of inherited high blood pressure that starts during early childhood. The condition results from a genetic defect which causes impaired metabolism of cortisol.
• Apraxia, oculomotor, Cogan type: A rare inherited condition where the person is unable to move eyes horizontally making it difficult to follow objects.
• Arachnodactyly - ataxia - cataract - aminoaciduria - mental retardation: A rare syndrome characterized mainly by congenital cataracts, ataxia, mental retardation, abnormal amino acid metabolism and long, thin fingers.
• Arachnoid Cysts: A rare disorder involving a fluid-filled cysts on the arachnoid membrane which is one of the thin layers of tissue that form a membrane which covers the spinal cord and brain. The type and severity of symptoms is determined by the size and location of the cyst.
• Arakawa's syndrome 2: An inherited metabolic disorder where an enzyme deficiency (methionine synthase) causes mental and physical retardation, blood disorders, degeneration of brain tissue and various other symptoms.
• Armendares syndrome: A rare syndrome characterized mainly by retarded growth and facial, skull and eye abnormalities.
• Arnold-Chiari malformation type 4: Arnold-Chiari malformation is a rare malformation where the base of the brain enters into the upper spinal canal. Type 4 actually involves a lack of development of a portion of the base of the brain (cerebellum). The prognosis is very poor with death often occurring during infancy.
• Aromatic amino acid decarboxylase deficiency: A rare inborn error of metabolism involving the deficiency of an enzyme (aromatic L-amino acid decarboxylase) needed to process aromatic amino acids. This results in a deficiency of neurotransmitters such as dopamine and serotonin. The condition manifests as movement and neurological problems.
• Arterial occlusive disease, progressive - hypertension - heart defects - bone fragility - brachysyndactyly: A rare syndrome characterized by narrowing or blockage of a number of arteries (in the kidneys, abdomen, brain and heart) as well as fragile bones, heart defects and finger abnormalities. Fractures and high blood pressure often start during the first years of life.
• Arthrogryposis multiplex congenita - pulmonary hypoplasia: A rare congenital syndrome involving degeneration of the brain and spinal cord and characterized by facial, head, skeletal and muscular abnormalities. Reduced fetal activity causes many of the problems.
• Aspartylglucosaminidase deficiency: A rare glycoprotein metabolism disorder caused by a deficiency of an enzyme called aspartylglucosaminidase. Patients tend to develop normally during the first few years of life and development continues slowly until adolescence when mental retardation becomes progressively worse.
• Aspartylglucosaminuria: A rare glycoprotein metabolism disorder caused by a deficiency of an enzyme called aspartylglucosaminidase. Patients tend to develop normally during the first few years of life and development continues slowly until adolescence when mental retardation becomes progressively worse.
• Aspartylglycosaminuria: A rare glycoprotein metabolism disorder caused by a deficiency of an enzyme called aspartylglucosaminidase. Patients tend to develop normally during the first few years of life and development continues slowly until adolescence when mental retardation becomes progressively worse.
• Asperger syndrome: A neuropsychiatric disorder mainly involving the inability to understand and becoming involved in social interaction.
• Aspirin - Teratogenic Agent: There is strong evidence to indicate that exposure to Aspirin during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Ataxia - diabetes - goiter - gonadal insufficiency: A rare disorder characterized by diabetes, goiter, insufficient hormone production by the gonads and progressive ataxia.
• Ataxia Telangiectasia: A rare inherited childhood disorder involving progressive degeneration of the nervous system.
• Atenolol - Teratogenic Agent: There is strong evidence to indicate that exposure to Atenolol during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Athabaskan brainstem dysgenesis: A rare neurological disorder caused by abnormal brainstem development and function.
• Athabaskan severe combined immunodeficiency: A severe immunodeficiency disorder found in Navajo and Apache populations.
• Atransferrinemia: A rare inherited condition characterized by the absence of a compound called transferring which results in a buildup of iron in the body's tissues as well as anemia.
• Atrial septal defect 1: A rare heart malformation involving the presence of an abnormal opening between the two atrial chambers of the heart which allows abnormal mixing of oxygenated and deoxygenated blood. The severity of the symptoms depends on the size and location of the defect with mild cases being asymptomatic until adulthood. Atrial septal defect 1 is caused by a mutation on chromosome 6p21.3.
• Atrial septal defect 2: A rare heart malformation involving the presence of an abnormal opening between the two atrial chambers of the heart which allows abnormal mixing of oxygenated and deoxygenated blood. The severity of the symptoms depends on the size and location of the defect with mild cases being asymptomatic until adulthood. Atrial septal defect 2 is caused by a mutation on chromosome 8p23.1-p22.
• Attention Deficit Hyperactivity Disorder: Behavioral disorder with hyperactivity and/or inattention.
• Atypical pyridoxine-dependent seizures: A form of epilepsy which responds to anticonvulsant therapy for only a period of time but are able to be managed by pyridoxine supplementation after a few months. Seizures may disappear for a few months even after pyridoxine supplementation is ceased.
• Auditory Processing Disorder: Failure of the brain to correctly process sound.
• Auditory perceptual disorder: A hearing disorder where the brain is unable to properly process or interpret auditory information it receives from the hearing organs.
• Autism: Childhood mental condition with social and communication difficulties.
• Autoimmune thyroid disease associated Celiac Disease: Patients with autoimmune thyroid disease are more susceptible to developing celiac disease than the average population. Celiac disease is an autoimmune disorder characterized by intolerance to gluten by the small intestine. The type and severity of symptoms varies amongst people - some people have severe gastrointestinal symptoms from infancy whereas other have no symptoms other than fatigue or anemia during adulthood.
• Autosomal Recessive Polycystic Kidney Disease: Severe form of PKD, a genetic kidney disease.
• Axenfeld-Rieger syndrome: A rare genetic disorder characterized by underdeveloped or absent teeth and craniofacial and eye abnormalities. The range of symptoms that can occur is somewhat variable.
• Axial mesodermal dysplasia spectrum: A variable range of defects that occur during fetal development. The defect occurs at a cellular level and affects the way various parts of the body develop.
• Azarcon-induced lead poisoning: Azarcon is a lead-containing tetraoxide salt used mainly by Mexican people to treat digestive or stomach problems including indigestion and diarrhea. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
• Azathioprine - Teratogenic Agent: There is strong evidence to indicate that exposure to Azathioprine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• BBB syndrome, X-linked: A rare genetic disorder characterized by defects along the midline of the body. The type and severity of symptoms can vary considerably. There are two subtypes of the disorder: type I is inherited in a X-linked manner and type II is inherited in an autosomal dominant manner. Females with type I tend to have few if any symptoms - often the only symptom is wide-set eyes.
• Ba Bow Sen-induced lead poisoning: Ba Bow Sen is a folk remedy used mainly by Chinese people to treat childhood hyperactivity and to alleviate nightmares. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
• Baber's syndrome: A very rare syndrome characterized by the association of congenital liver cirrhosis with Fanconi syndrome.
• Babinski-Froelich Syndrome: A rare condition where an endocrine abnormality (caused by such things as a pituitary tumor or damage to the hypothalamus) affects hormone levels which results in a variety of symptoms.
• Bagatelle-Cassidy syndrome: An extremely rare syndrome characterized by a large head, widely spaced eyes, hearing loss, short limbs and developmental delay.
• Bali goli-induced lead poisoning: Bali goli (flat black bean) is a folk remedy used mainly by Indian and Asian people to treat intestinal problems. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
• Bangstad syndrome: A rare disorder characterized by diabetes, goiter, insufficient hormone production by the gonads and progressive ataxia.
• Baraitser-Winter syndrome: A rare syndrome characterized by a structural eye defect, droopy eyelids and mental retardation.
• Barber-Say syndrome: A very rare syndrome characterized primarily by excessive hair growth, skin anomaly, large mouth and outward turned eyelids (ectropion).
• Barth Syndrome: A rare genetic disorder where the body's cells are unable to make sufficient energy resulting in an accumulation in the body of 3-methylglutaconic acid. Type 2 is characterized by its affects on the heart.
• Bartter's syndrome, antenatal type 1: A rare genetic kidney disorder that causes hypokalemia. A defect in the NKCC2 gene impairs the functioning of the Na-Cl cotransporter and leads to electrolyte imbalance. The rate of death is high prior to diagnosis.
• Bartters syndrome, antenatal , type 2: A rare genetic kidney disorder that causes hypokalemia. A defect in the ROMK gene impairs the ATP-regulated potassium channel functioning and leads to electrolyte imbalance.
• Batten Disease: Rare childhood genetic degenerative nerve system disease.
• Bellini-Chiumello-Rinoldi syndrome: A very rare syndrome characterized primarily by mental retardation, short stature and unusual shaped ends of long bones.
• Benazepril - Teratogenic Agent: There is strong evidence to indicate that exposure to Benazepril during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Benign Fasciculation Syndrome: Common movement disorder manifesting in a fine (fast) tremor; it is an inherited condition of unknown cause.
• Benjamin syndrome: A rare disorder characterized mainly by anemia, bone abnormalities and mental and growth retardation.
• Benzthiazide - Teratogenic Agent: There is strong evidence to indicate that exposure to Benzthiazide during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Berk-Tabatznik syndrome: A rare condition characterized by eye and skeletal problems.
• Berlin Breakage syndrome: A very rare syndrome characterized mainly by a small head, reduced immunity and increased risk of cancer. The features of this condition are virtually indistinguishable from the Nigmegen Breakage syndrome.
• Berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification: A very rare syndrome characterized primarily by brain aneurysms, liver cirrhosis, pulmonary emphysema and calcification of the brain (cerebrum).
• Beta Thalassemia intermedia: Thalassemia is an inherited blood disorder characterized by abnormal synthesis of hemoglobin. There are two subtypes of the disorder (? and ?) depending on what portion of the hemoglobin is abnormally synthesized. Beta Thalassemia intermedia involves defects in both of the two genes required to make each ? protein chain. The condition causes varying degrees of moderate anemia.
• Beta thalassemia: Thalassemia is an inherited blood disorder characterized by abnormal synthesis of hemoglobin. Hemoglobin consists of two main protein chains called ? and ?. Beta thalassemia involves defects in one or more of the two genes required to make each ? protein chain. The main symptom is anemia, the severity of which can vary amongst patients depending on how many defective genes are involved.
• Beta-ureidopropionase deficiency: A metabolic disorder where the deficiency of an enzyme (Beta-ureidopropionase) results mainly in neurological abnormalities such as mental retardation. The symptoms are variable however.
• Betamethasone - Teratogenic Agent: There is strong evidence to indicate that exposure to Betamethasone during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Betaxolol - Teratogenic Agent: There is strong evidence to indicate that exposure to Betaxolol during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Bhaskar-Jagannathan syndrome: A very rare syndrome characterized primarily by long, thin fingers, amino acids in the urine, cataracts (during infancy), incoordination and delayed development.
• Biaxin - Teratogenic Agent: There is evidence to indicate that exposure to Biaxin (an antibiotic) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Bile acid synthesis defect, congenital, 2: A defect which prevents the body from making bile acid which results in progressive liver disease. The defect is a deficiency of a particular enzyme (cholestasis with delta(4)-3-oxosteroid 5-beta-reductase) needed to make bile acid.
• Bile acid synthesis defect, congenital, 4: A defect which prevents the body from making bile acid which results in progressive liver disease.
• Bile acid synthesis defects: A defect which prevents the body from making bile acid which results in progressive liver disease.
• Bile acid synthesis defects, congenital, 1: A defect which prevents the body from making bile acid which results in progressive liver disease. The defect is a deficiency of a particular enzyme (3-beta-hydroxy-delta-5-C27-steroid oxidoreductase) needed to make bile acid.
• Bile acid synthesis defects, congenital, 2: A defect which prevents the body from making bile acid which results in progressive liver disease. The defect is a deficiency of a particular enzyme (cholestasis with delta(4)-3-oxosteroid 5-beta-reductase) needed to make bile acid.
• Bile acid synthesis defects, congenital, 3: A defect which prevents the body from making bile acid which results in progressive liver disease. The defect involved a deficiency of 7-alpha-hydroxylase which is an enzyme needed to prevent the accumulation of 27-hydroxycholesterol which is toxic to the liver.
• Bile acid synthesis defects, congenital, 4: A defect which prevents the body from making bile acid which results in progressive liver disease.
• Bint Al Zahab-induced lead poisoning: Bint Al Zahab is a folk remedy used by various ethnic groups (e.g. Indians, Saudi Arabians) to treat infant colic and to facilitate the passage of meconium in newborns. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
• Biotinidase deficiency: A metabolic disorder where the body lacks the enzyme biotinidase needed to process the vitamin called biotin (vitamin H) into carboxylase enzymes.
• Biotinidase deficiency, late onset: A metabolic disorder where the body lacks the enzyme biotinidase needed to process the vitamin called biotin (vitamin H) into carboxylase enzymes. The severity of symptoms may vary depending on the degree of deficiency. Severe cases can result in metabolic acidosis which can lead to death if treatment isn't given.
• Bird-headed dwarfism with progressive ataxia, Insulin-resistant diabetes, goiter and primary gonadal insufficiency: A rare disorder characterized by diabetes, goiter, insufficient hormone production by the gonads and progressive ataxia.
• Bird-headed dwarfism, Montreal type: A rare condition characterized by dwarfism and a characteristic beak-shaped nose.
• Bisoprolol - Teratogenic Agent: There is strong evidence to indicate that exposure to Bisoprolol during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Blepharophimosis - nasal groove - growth delay: A very rare syndrome characterized mainly by eyelid abnormalities, retarded growth and a nasal groove.
• Blepharophimosis - nasal groove - growth retardation: A very rare syndrome characterized mainly by eyelid abnormalities, retarded growth and a nasal groove.
• Blethen-Wenick-Hawkins syndrome: A rare syndrome characterized mainly by short stature, skeletal abnormalities and reduced pituitary gland functioning.
• Blind loop syndrome: A rare intestinal defect where there is a small loop in the intestines that allow digesting material to enter but not exit. The symptoms are variable depending on the size and location of the pouch.
• Boichis syndrome: A rare syndrome involving nephronophthisis (progressive destruction of kidney tissue) from birth which leads to kidney failure and liver fibrosis.
• Bokhoor-induced lead poisoning: Bokhoor is a traditional used mainly by Saudi Arabian people to calm infants - it involves burning wood and lead sulphide and inhaling the fumes that are produced. This practice has the potential to cause lead poisoning due to the relatively high exposure to lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
• Bone fragility, craniosynostosis, proptosis, hydrocephalus: A very rare genetic disorder characterized by fragile bones, premature closure of skull bones, protruding eyeballs and fluid buildup in the skull.
• Borjeson Syndrome: A rare genetic disorder characterized by severe mental deficiency, large ears, hypogonadism and other abnormalities.
• Brailsford: A rare inherited skeletal disorder characterized by short hand and foot bones which may also be deformed. Other anomalies are also present.
• Brain malformation - congenital heart disease - postaxial polydactyly: A very rare syndrome characterized mainly by a brain defect, congenital heart disease and extra fingers.
• Branchial arch syndrome X-linked: A rare syndrome characterized by a range of abnormalities such as facial anomalies, impaired hearing, short stature, learning disability and branchial arch defects.
• Branchial clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct, and: A rare genetic disorder characterized by branchial defects, tear duct obstruction and pseudocleft of upper lip.
• Brevibloc - Teratogenic Agent: There is evidence to indicate that exposure to Brevibloc (a heart drug) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Bromides - Teratogenic Agent: There is strong evidence to indicate that exposure to Bromides during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Bronchopulmonary dysplasia: A condition which is characterized by dysplasia of the brochopulmonary vessels
• Buntinx-Lormans-Martin syndrome: A very rare syndrome characterized mainly by eye anomalies and fusion of the forearm bones.
• Buprenorphine - Teratogenic Agent: There is strong evidence to indicate that exposure to Buprenorphine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Burnett-Schwartz-Berberian syndrome: A rare syndrome characterized by an inflammatory facial skin disorder and various congenital anomalies.
• C-like syndrome: A rare disorder involving poor fetal growth, limb and facial defects and severe developmental delay.
• CCFDN: A rare, recessively inherited syndrome characterized by cataracts during infancy, unusual facial appearance and neuropathy.
• CHARGE Syndrome: A rare disorder characterized by choanal atresia, coloboma, ear and genital abnormalities and congenital heart defects.
• CMV antenatal infection: A rare condition where a fetus becomes infected with the cytomegalovirus through the mother.
• $CRMO, juvenile$: A rare chronic inflammatory bone disease that occurs in children. The symptoms go into periods of remission only to return. The most common sites for the inflammation are the shinbone, thighbone and collarbone with usually several sites being affected at once.
• Caffeine - Teratogenic Agent: There is strong evidence to indicate that exposure to caffeine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Campomelic dwarfism: A rare genetic disorder characterized by bowed tibia, underdeveloped shoulder blades and a flat face.
• Campomelic dysplasia: A rare genetic disorder characterized by bowed tibia, underdeveloped shoulder blades and a flat face.
• Camptodactyly syndrome, Guadalajara type 1: A rare syndrome characterized mainly by retarded fetal growth and permanently flexed fingers as well as other abnormalities such as short toes, short neck and a small head.
• Camptodactyly syndrome, Guadalajara type 2: A rare syndrome characterized mainly by retarded fetal growth and permanently flexed finger (camptodactyly).
• Camptodactyly syndrome, Guadalajara type 3: A rare syndrome characterized mainly by retarded fetal growth and permanently flexed finger (camptodactyly).
• Camptodactyly, tall stature, and hearing loss syndrome: A rare syndrome characterized mainly by camptodactyly, tall stature and hearing loss. The hearing loss starts at birth or during infancy and progresses during childhood resulting in mild to severe hearing impairment.
• Canavan disease: Rare genetic degenerative brain disease in infants.
• Canavan leukodystrophy: A rare inherited disorder where a chemical imbalance in the brain leads to spongy degeneration of the central nervous system which results in progressive mental deterioration and associated symptoms.
• Captopril - Teratogenic Agent: There is strong evidence to indicate that exposure to Captopril during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Carbamazepine - Teratogenic Agent: There is strong evidence to indicate that exposure to Carbamazepine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Carbamoyl-phosphate synthase 1 deficiency: A very rare inherited urea cycle disorder where the lack of the enzyme carbamoyl phosphate synthetase prevents ammonia from being turned into urea and being excreted in the urine. Excess ammonia builds up in the body which can cause serious complications or even death if left untreated.
• Carbohydrate deficiency glycoprotein syndrome type II: Congenital disorders of glycosylation is a group of very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 2 is caused by a genetic defect which involves the gene for a particular enzyme (Golgi localized N-acetyl-glucosaminyltransferase II). Type 2 tends to have more severe psychomotor retardation than type 1 but there is no peripheral neuropathy or underdeveloped cerebellum.
• Cardem - Teratogenic Agent: There is evidence to indicate that exposure to Cardem (a beta-blocker medication) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Cardiac malformation: Any malformation or structural defect of the heart or it's structures. Some examples include atrioventricular septal defect, conotruncal malformations, transposition of great vessels and heart valve dysplasia. The symptoms vary in nature and severity depending on the type of malformation.
• Cardiocranial syndrome: A rare syndrome characterized mainly by heart and skull abnormalities.
• Cardiomelic syndrome Stratton Koehler type: A rare syndrome characterized mainly by heart and skeletal abnormalities.
• Carnevale-Krajewska-Fischetto syndrome: A rare genetic disorder characterized by drooping eyelids, hip problems, undescended testes and developmental delay.
• Carnosinase deficiency: A very rare inherited metabolic disorder characterized by severe neurological abnormalities such as mental retardation and myoclonic seizures.
• Carpenter syndrome: A rare genetic disorder characterized by premature closing of skull bones, craniofacial abnormalities, heart defects, growth retardation and other disorders.
• Cartelol - Teratogenic Agent: There is strong evidence to indicate that exposure to Cartelol during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Cartwright-Nelson-Fryns syndrome: A rare syndrome characterized by mental and physical retardation as well as nail and digital abnormalities.
• Cataract - aberrant oral frenula - growth delay: A rare syndrome characterized by cataracts, growth problems and abnormal mouth tissue (frenulum).
• Cataract and cardiomyopathy: A rare syndrome characterized by the association of congenital cataracts, heart muscle disease, lactic acidosis and skeletal muscle disease. The disorder involves the abnormal storage of lipids and glycogen in the skeletal and heart muscles. The cataracts progress rapidly and require surgery. The severity of the disorder ranges from stillbirth to survival into the fourth decade.
• Catatonic syndrome: A rare syndrome often seen in schizophrenics or associated with central nervous system disturbances or brain trauma. The symptoms tend to occur in episodes with periods of remission in between.
• Catel-Manzke Syndrome: A rare genetic disorder characterized by a small jaw, cleft palate and an extra bone at the base of the pointer finger.
• Cebagin-induced lead poisoning: Cebagin is a folk remedy used mainly by Middle Eastern people to treat teething. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
• Celiac Disease: Digestive intolerance to gluten in the diet.
• Celiac disease, susceptibility to 1: The susceptibility to developing celiac disease due to a genetic defect on chromosome 6p21.3. Celiac disease is a small intestine disorder where the ingestion of foods containing wheat gluten and similar proteins leads to the inflammation of the small intestine lining. This damage affects absorption of nutrients and can cause symptoms such as diarrhea. Growth in children due to malabsorption may also result. The type and severity of symptoms is variable.
• Celiac disease, susceptibility to 10: The susceptibility to developing celiac disease due to a genetic defect on chromosome 3q25-q26. Celiac disease is a small intestine disorder where the ingestion of foods containing wheat gluten and similar proteins leads to the inflammation of the small intestine lining. This damage affects absorption of nutrients and can cause symptoms such as diarrhea. Growth in children due to malabsorption may also result. The type and severity of symptoms is variable.
• Celiac disease, susceptibility to 11: The susceptibility to developing celiac disease due to a genetic defect on chromosome 3q28. Celiac disease is a small intestine disorder where the ingestion of foods containing wheat gluten and similar proteins leads to the inflammation of the small intestine lining. This damage affects absorption of nutrients and can cause symptoms such as diarrhea. Growth in children due to malabsorption may also result. The type and severity of symptoms is variable.
• Celiac disease, susceptibility to 12: The susceptibility to developing celiac disease due to a genetic defect on chromosome 6q25.3. Celiac disease is a small intestine disorder where the ingestion of foods containing wheat gluten and similar proteins leads to the inflammation of the small intestine lining. This damage affects absorption of nutrients and can cause symptoms such as diarrhea. Growth in children due to malabsorption may also result. The type and severity of symptoms is variable.
• Celiac disease, susceptibility to 13: The susceptibility to developing celiac disease due to a genetic defect in the SH2B3 gene on chromosome 12q24. Celiac disease is a small intestine disorder where the ingestion of foods containing wheat gluten and similar proteins leads to the inflammation of the small intestine lining. This damage affects absorption of nutrients and can cause symptoms such as diarrhea. Growth in children due to malabsorption may also result. The type and severity of symptoms is variable.
• Celiac disease, susceptibility to 2: The susceptibility to developing celiac disease due to a genetic defect on chromosome 5q31-q33. Celiac disease is a small intestine disorder where the ingestion of foods containing wheat gluten and similar proteins leads to the inflammation of the small intestine lining. This damage affects absorption of nutrients and can cause symptoms such as diarrhea. Growth in children due to malabsorption may also result. The type and severity of symptoms is variable.
• Celiac disease, susceptibility to 3: The susceptibility to developing celiac disease due to a genetic defect on chromosome 2q33. Celiac disease is a small intestine disorder where the ingestion of foods containing wheat gluten and similar proteins leads to the inflammation of the small intestine lining. This damage affects absorption of nutrients and can cause symptoms such as diarrhea. Growth in children due to malabsorption may also result. The type and severity of symptoms is variable.
• Celiac disease, susceptibility to 4: The susceptibility to developing celiac disease due to a genetic defect on chromosome 19p13.1. Celiac disease is a small intestine disorder where the ingestion of foods containing wheat gluten and similar proteins leads to the inflammation of the small intestine lining. This damage affects absorption of nutrients and can cause symptoms such as diarrhea. Growth in children due to malabsorption may also result. The type and severity of symptoms is variable.
• Celiac disease, susceptibility to 5: The susceptibility to developing celiac disease due to a genetic defect on chromosome 15q11-q13. Celiac disease is a small intestine disorder where the ingestion of foods containing wheat gluten and similar proteins leads to the inflammation of the small intestine lining. This damage affects absorption of nutrients and can cause symptoms such as diarrhea. Growth in children due to malabsorption may also result. The type and severity of symptoms is variable.
• Celiac disease, susceptibility to 6: The susceptibility to developing celiac disease due to a genetic defect on chromosome 4q27. Celiac disease is a small intestine disorder where the ingestion of foods containing wheat gluten and similar proteins leads to the inflammation of the small intestine lining. This damage affects absorption of nutrients and can cause symptoms such as diarrhea. Growth in children due to malabsorption may also result. The type and severity of symptoms is variable.
• Celiac disease, susceptibility to 7: The susceptibility to developing celiac disease due to a genetic defect on chromosome 1q31. Celiac disease is a small intestine disorder where the ingestion of foods containing wheat gluten and similar proteins leads to the inflammation of the small intestine lining. This damage affects absorption of nutrients and can cause symptoms such as diarrhea. Growth in children due to malabsorption may also result. The type and severity of symptoms is variable.
• Celiac disease, susceptibility to 8: The susceptibility to developing celiac disease due to a genetic defect on chromosome 2q11-q12. Celiac disease is a small intestine disorder where the ingestion of foods containing wheat gluten and similar proteins leads to the inflammation of the small intestine lining. This damage affects absorption of nutrients and can cause symptoms such as diarrhea. Growth in children due to malabsorption may also result. The type and severity of symptoms is variable.
• Celiac disease, susceptibility to 9: The susceptibility to developing celiac disease due to a genetic defect on chromosome 3p21. Celiac disease is a small intestine disorder where the ingestion of foods containing wheat gluten and similar proteins leads to the inflammation of the small intestine lining. This damage affects absorption of nutrients and can cause symptoms such as diarrhea. Growth in children due to malabsorption may also result. The type and severity of symptoms is variable.
• Celipro - Teratogenic Agent: There is evidence to indicate that exposure to Celipro (a beta-blocker medication) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Celiprolol - Teratogenic Agent: There is evidence to indicate that exposure to Celiprolol (a beta-blocker medication) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Cephalopolysyndactyly: A rare genetic disorder characterized by premature closing of skull bones and craniofacial abnormalities, finger and toe abnormalities. The type and severity of symptoms is variable with many cases remaining undiagnosed because their condition is relatively mild and doesn't cause many problems.
• Cerebellar ataxia - intellectual deficit - optic atrophy - skin abnormalities: A rare syndrome characterized by ataxia, mental retardation, optic atrophy and skin abnormalities.
• Cerebellar hypoplasia: A rare brain disorder where a part of the brain (cerebellum) fails to develop fully. The cerebellum is the part of the brain that controls balance and movement.
• Cerebellar hypoplasia - endosteal sclerosis: A rare disorder character where a part of the brain (cerebellum) is underdeveloped and abnormally increased bone density (endosteal sclerosis).
• Cerebellar hypoplasia - tapetoretinal degeneration: A rare disorder character where a part of the brain (cerebellum) is underdeveloped and a nonprogressive eye disorder involving the retinal pigments. The cerebellum is the part of the brain that controls balance and movement.
• Cerebelloparenchymal disorder 3: A rare disorder characterized by mental deficiency and delayed development of speech and motor skills. The condition is nonprogressive and is caused by degeneration of a part of the brain called the cerebellum.
• Cerebral Palsy: Any brain disorder causing movement disability
• Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome: A rare disorder characterized by abnormal brain development, neurological problems, scaly skin and thickened skin on the palms and soles.
• Cerebral palsy, spastic, diplegic: Brain damage that involves muscle rigidity that occurs either in both arms or in both legs. The brain damage is often the result of a birth defect or some sort of trauma to the brain.
• Cerebro oculo skeleto renal syndrome: A very rare syndrome characterized mainly by brain, eye, skeletal and kidney abnormalities.
• Cerebro-facio-thoracic dysplasia: A very rare syndrome characterized by mental retardation, spinal and rib defects and facial anomalies.
• Cerebro-oculo-dento-auriculo-skeletal syndrome: A very rare syndrome characterized by abnormalities of the brain, eyes, teeth, ears and skeleton.
• Cerebrocostomandibular Syndrome: A rare genetic disorder characterized by a very small jaw, abnormal rib development and a small thorax as well as other abnormalities.
• Ceroid lipofuscinosis, neuronal 1, infantile: A rare inherited biochemical disorder involving the progressive accumulation of certain chemicals (lipopigments) in body tissues due to deficiency of an enzyme (palmitoyl-protein thioesterase) needed to process it.
• Cervical hypertrichosis neuropathy: A very rare disorder characterized mainly by a hairy throat and abnormal sensations in the hands and feet.
• Charcot-Marie-Tooth disease, Type 2A: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function.
• Charcot-Marie-Tooth disease, Type 4A: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 4A has an autosomal recessive inheritance and involves a defect in the GDAP 1 protein gene on chromosome 8. The recessive forms of CMT tend to be more severe than the dominant form and often involve hand and foot problems as well as additional systemic symptoms.
• Charcot-Marie-Tooth disease, Type 4E: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 4B2 has an autosomal recessive inheritance and involves a defect in the EGR2 gene on chromosome 10.
• Charcot-Marie-Tooth disease, X-linked recessive, 4: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 4X is an inherited defect of the X chromosome and affects males to a greater degree than females and also involves mental retardation and deafness.
• Chemical poisoning - Lead-containing Paint: Lead pain contains lead as well as other harmful chemicals. The lead in the pain is toxic (especially to young children) and ingesting fresh or old paint can cause serious symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
• Childhood hypophosphatasia: An inherited bone disorder due to an inborn error of metabolism characterized by a deficiency of alkaline phosphate which results in loss of deciduous teeth before the age of 5 as well as muscle and bone problems - childhood onset.
• Childhood-onset cerebral X-linked adrenoleukodystrophy: A rare genetic disorder characterized by progressive degeneration of the protective sheath around nerves resulting in increasing difficulty. The childhood cerebral form of the condition is the most severe.
• Chlorambucil - Teratogenic Agent: There is evidence to indicate that exposure to Chlorambucil (a chemotherapy drug) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Chlorothiazide - Teratogenic Agent: There is evidence to indicate that exposure to Chlorothiazide ( a diuretic) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Cholestasis: A condition where bile formation or flow is reduced.
• Cholestasis, progressive familial intrahepatic 1: A rare inherited condition where bile is unable to drain from the liver where it builds up and causes progressive liver damage.
• Cholestasis, progressive familial intrahepatic 2: A rare inherited condition where bile is unable to drain from the liver where it builds up and causes progressive liver damage. The condition has an early onset and usually leads to end-stage liver disease by the end of the second decade. The various types of this condition differ in the origin of the genetic defect (liver-specific ATP-binding cassette transporter on chromosome 2q24). Type 2 is also associated with an increased risk of liver cancer in the first few years of life.
• Cholestasis, progressive familial intrahepatic 3: A rare inherited condition where bile is unable to drain from the liver where it builds up and causes progressive liver damage. The condition has an early onset and usually leads to end-stage liver disease by the end of the second decade. The various types of this condition differ in the origin of the genetic defect (liver-specific ATP-binding cassette transporter on chromosome 2q24). Type 2 is also associated with an increased risk of liver cancer in the first few years of life.
• Chondrodysplasia - disorder of sex development: A very rare syndrome characterized mainly by severe dwarfism, abnormal bone development and central nervous system and eye problems.
• Chondrodysplasia - pseudohermaphrodism: A very rare syndrome characterized mainly by severe dwarfism, abnormal bone development and central nervous system and eye problems.
• Chondrodysplasia punctata: An inherited skeletal abnormality where bone calcifications near joints and other disorders result in growth retardation, short limbs, cataracts and an abnormal nose shape. Also called chondrodystrophia calcificans congenital or congenital stippled epiphyses.
• Chondrodysplasia punctata, Sheffield type: A rare genetic disorder characterized by bone anomalies, failure to thrive and unusual facial features. The bone anomalies consists of abnormal calcification in various parts of the body such as the feet, toes, ankle, tailbone, vertebrae, top of thigh, upper arm and laryngeal cartilage. The calcification abnormalities tend to resolve after within the first 5 years.
• Chondrodysplasia punctata, non rhizomelic type: A group of inherited disorder affecting the skeleton, skin, eyes and mental function. The disorders are characterized mainly by stippled epiphyses (abnormal calcification near joints) during infancy. The non-rhizomelic forms tend to be milder, with minimal or no upper limb shortening. The Joints in the ends of the arms and legs tend to be more affected. Some of the specific disorders in this group are Conradi-Hunermann disease, Happle's chondrodysplasia and brachytelephalagnic chondrodysplasia punctata. The range of symptoms and severity may vary between disorders.
• Chondrodystrophia calcificans congenita: A rare genetic disorder characterized by growth deficiency, short limbs, large skin pores, sparse hair and other abnormalities.
• Chondrodystrophia punctata, autosomal dominant: A rare genetic disorder characterized by growth deficiency, short limbs, large skin pores, sparse hair and other abnormalities.
• Chromosome 1, 1p36 deletion syndrome: A rare chromosomal disorder where deletion of a portion of chromosome 1 causes various abnormalities such as heart problems, mental retardation, developmental delay, facial dysmorphism and short stature. The symptoms are variable depending on the exact location of chromosomal deletion.
• Chromosome 1, Partial Trisomy: A rare genetic disorder where part of the genetic material from chromosome 1 is duplicated so there are three copies in the body's cells rather than the normal two copies. The type and severity of symptoms is variable depending on the size and location of the genetic material duplicated.
• Chromosome 1, deletion q21 q25: A rare chromosomal disorder where deletion of a portion of chromosome 1 causes various abnormalities such as retarded fetal growth, osteoporosis, facial anomalies and hearing loss.
• Chromosome 1, pter-p36: A very rare chromosomal disorder where the end portion of the short arm of chromosome 1 is missing. The type and severity of symptoms is variable.
• Chromosome 1, trisomy 1q32 qter: A rare chromosomal disorder where duplication of a portion of chromosome 1 causes various abnormalities such as retarded fetal growth, facial anomalies, mental retardation, stillbirth, heart defects and finger and toe abnormalities.
• Chromosome 1, uniparental disomy 1q12 q21: A rare chromosomal disorder where part or all of the short arm (p) of chromosome 1 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
• Chromosome 10 ring syndrome: A rare chromosomal disorder where genetic material from one or both ends of chromosome 10 is missing and the two broken ends have rejoined to form a ring. The resulting type and severity of symptoms is determined by the amount and location of genetic material missing.
• Chromosome 10, distal trisomy 10q: A rare chromosomal disorder where the distal portion of the long arm of chromosome 10 is duplicated so there is three copies of it instead of the normal two. The condition is characterized by drooping upper eyelid, short palpebral fissures and camptodactyly.
• Chromosome 10p deletion syndrome: A rare chromosomal disorder where there is a deletion of the short arm (p) of chromosome 10 resulting in variable abnormalities.
• Chromosome 10p duplication/10q deletion syndrome: A rare chromosomal disorder where a section of the short arm (p) of chromosome 10 is duplicated and a section of the long arm (q) of chromosome 10 is deleted resulting in various abnormalities.
• Chromosome 10p terminal deletion syndrome: A very rare syndrome caused by a chromosomal defect (10p terminal deletion) and can result in a variety of malformations that are similar to DiGeorge syndrome and velocardiofacial syndrome.
• Chromosome 11, deletion 11p: A syndrome that is caused by the deletion of short arm (p) of chromosome 11. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is deleted.
• Chromosome 11;14 translocation: A rare chromosomal disorder where some genetic material from chromosome 11 is moved to chromosome 14. Only one reported case.
• Chromosome 11q duplication syndrome: A rare chromosomal disorder where there are three copies of the long arm (q) of chromosome 11 rather than the normal two resulting in various abnormalities. The type and severity of symptoms depend on the amount and location of genetic material duplicated.
• Chromosome 12 ring syndrome: A rare chromosomal disorder where genetic material from one or both ends of chromosome 12 is missing and the two broken ends have rejoined to form a ring. The resulting type and severity of symptoms is determined by the amount and location of genetic material missing.
• Chromosome 12, 12p trisomy: A rare chromosomal disorder where there are three copies of the short arm (p) of chromosome 12 rather than the normal two resulting in various abnormalities. The type and severity of symptoms depend on the amount and location of genetic material deleted.
• Chromosome 12, Isochromosome 12p Mosaic: A very rare disorder genetic disorder involving abnormalities in chromosome 12. The severity of symptoms is variable and tends to include a wide range of defects and abnormalities.
• Chromosome 12, trisomy 12q: A rare chromosomal disorder where there are three copies of the long arm (q) of chromosome 12 rather than the normal two resulting in various abnormalities. In most cases, death occurs during infancy. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is duplicated.
• Chromosome 12p deletion: A rare chromosomal disorder where there is a deletion of the short arm (p) of chromosome 12 resulting in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is deleted.
• Chromosome 12p deletion syndrome: A rare chromosomal disorder where there is a deletion of the short arm (p) of chromosome 12 resulting in various abnormalities.
• Chromosome 12p duplication syndrome: A rare chromosomal disorder where there are three copies of the short arm (p) of chromosome 12 rather than the normal two resulting in various abnormalities. The type and severity of symptoms depend on the amount and location of genetic material deleted.
• Chromosome 12p partial deletion: A rare chromosomal disorder where there is a deletion of the short arm (p) of chromosome 12 resulting in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is deleted.
• Chromosome 12p tetrasomy syndrome: A rare chromosomal disorder where there are four copies of the short arm (p) of chromosome 12 rather than the normal two resulting in various abnormalities.
• Chromosome 12q duplication syndrome: A rare chromosomal disorder where there are three copies of the long arm (q) of chromosome 12 rather than the normal two resulting in various abnormalities. In most cases, death occurs during infancy.
• Chromosome 13 ring syndrome: A rare chromosomal disorder where genetic material from one or both ends of chromosome 13 is missing and the two broken ends have rejoined to form a ring. The resulting type and severity of symptoms is determined by the amount and location of genetic material missing.
• Chromosome 13q deletion: A rare chromosomal disorder where the long arm (q) of chromosome 13 is deleted resulting in various physical, neurological and developmental abnormalities. The type and severity of symptoms is determined by the amount and location of the deleted genetic material.
• Chromosome 13q deletion syndrome: A rare chromosomal disorder where the long arm (q) of chromosome 13 is deleted resulting in various physical, neurological and developmental abnormalities. The type and severity of symptoms is determined by the amount and location of the deleted genetic material.
• Chromosome 13q duplication syndrome: A rare chromosomal disorder where the long arm (q) of chromosome 13 is duplicated resulting in various physical, neurological and developmental abnormalities.
• Chromosome 13q partial deletion: A rare chromosomal disorder where part of the long arm (q) of chromosome 13 is deleted resulting in various physical, neurological and developmental abnormalities. The type and severity of symptoms is determined by the amount and location of the deleted genetic material.
• Chromosome 14 Ring: A rare chromosomal disorder where genetic material from one or both ends of chromosome 14 is missing and the two broken ends have rejoined to form a ring. The resulting type and severity of symptoms is determined by the amount and location of genetic material missing. The disorder is characterized by growth and mental retardation and characteristic facial features.
• Chromosome 14 deletion: A rare genetic disorder where deletion genetic material from chromosome 14 causes various abnormalities. The type and severity of symptoms varies depending on the size and location of the genetic material that is deleted.
• Chromosome 14 trisomy: A rare chromosomal disorder involving duplication of genetic material from chromosome 14 resulting in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is duplicated.
• Chromosome 14 trisomy syndrome: A rare chromosomal disorder involving duplication of genetic material from chromosome 14 resulting in various abnormalities.
• Chromosome 14 uniparental disomy syndrome: A rare chromosomal disorder where two homologues are obtained from one parent.
• Chromosome 14, trisomy mosaic: A rare chromosomal disorder characterized by retarded growth before and after birth, mental retardation, developmental delay and various physical abnormalities. The type and severity of symptoms may vary between patients.
• Chromosome 15 Ring: A rare chromosomal disorder where genetic material from one or both ends of chromosome 15 is missing and the two broken ends have rejoined to form a ring. The resulting type and severity of symptoms is determined by the amount and location of genetic material missing.
• Chromosome 15 inverted duplication: A rare chromosomal disorder involving an duplicated section of chromosome 15 which is reversed end-to-end resulting in various abnormalities.
• Chromosome 15 trisomy: A rare chromosomal disorder involving an extra copy of genetic material from chromosome 15.
• Chromosome 15q duplication syndrome: A rare chromosomal disorder involving an extra copy of genetic material from the long arm of chromosome 15. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material.
• Chromosome 15q triplication syndrome: A rare chromosomal disorder where there are three copies of a part of the long arm of chromosome 15 resulting in various anomalies.
• Chromosome 15q, deletion: A rare chromosomal disorder involving deletion of genetic material from the long arm of chromosome 15.
• Chromosome 15q, trisomy: A rare chromosomal disorder involving an extra copy of genetic material from the long arm of chromosome 15. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material.
• Chromosome 16, uniparental disomy: A rare chromosomal disorder where an extra copy of chromosome 16 is inherited from one parent only.
• Chromosome 16p, partial duplication: A rare chromosomal disorder involving an extra copy of genetic material from the short arm of chromosome 16. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material.
• Chromosome 16q, partial deletion: A rare chromosomal disorder involving deletion of genetic material from the long arm of chromosome 17. The type and severity of symptoms are determined by the amount and location of the lost genetic material.
• Chromosome 16q, partial duplication: A rare chromosomal disorder involving an extra copy of genetic material from the long arm of chromosome 16. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material. Severe cases often result in spontaneous abortion or infant death.
• Chromosome 17 deletion: A rare genetic disorder where deletion genetic material from chromosome 17 causes various abnormalities. The type and severity of symptoms varies depending on the size and location of the genetic material that is deleted.
• Chromosome 17 ring: A rare chromosomal disorder where genetic material from one or both ends of chromosome 17 is missing and the two broken ends have rejoined to form a ring. The resulting type and severity of symptoms is determined by the amount and location of genetic material missing.
• Chromosome 17 trisomy: A rare genetic disorder where duplication of genetic material from chromosome 17 causes various abnormalities. The type and severity of symptoms varies depending on the size and location of the genetic material that is duplicated.
• Chromosome 17 trisomy mosaicism: A rare chromosomal disorder where there are three copies of chromosome 17 in some of the body's cells. The type of symptoms and severity is determined by the number of cells that have the three copies. Some cases have no obvious symptoms.
• Chromosome 17, deletion 17q23 q24: A rare chromosomal disorder involving deletion of genetic material from the long arm of chromosome 17. The type and severity of symptoms are determined by the amount and location of the lost genetic material.
• Chromosome 17p, partial deletion: A rare chromosomal disorder involving deletion of genetic material from the short arm of chromosome 17. The type and severity of symptoms are determined by the amount and location of the lost genetic material.
• Chromosome 17p, partial duplication: A rare chromosomal disorder involving an extra copy of genetic material from the short arm of chromosome 17. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material.
• Chromosome 17q, partial duplication: A rare chromosomal disorder involving an extra copy of genetic material from the long arm of chromosome 17. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material.
• Chromosome 18 Ring: A rare chromosomal disorder where genetic material from one or both ends of chromosome 18 is missing and the two broken ends have rejoined to form a ring. The resulting type and severity of symptoms is determined by the amount and location of genetic material missing.
• Chromosome 18, Tetrasomy 18p: A rare chromosomal disorder where there are four copies of short arm of chromosome 18 instead of the normal two which results in various genital, kidney, digital, head and face abnormalities.
• Chromosome 18, deletion 18q23: A very rare syndrome caused by a deletion of a part of the material on chromosome 18 and resulting in various abnormalities such as retarded growth, hearing loss and mental retardation. The abnormalities vary from patient to patient.
• Chromosome 18, trisomy 18q: A rare chromosomal disorder involving an extra copy of genetic material from the long arm of chromosome 18. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material.
• Chromosome 18q, partial deletion: A rare chromosomal disorder involving deletion of genetic material from the long arm of chromosome 18. The type and severity of symptoms are determined by the amount and location of the lost genetic material.
• Chromosome 19 ring syndrome: A rare chromosomal disorder where genetic material from one or both ends of chromosome 19 is missing and the two broken ends have rejoined to form a ring. The resulting type and severity of symptoms is determined by the amount and location of genetic material missing.
• Chromosome 19p duplication syndrome: A rare chromosomal disorder where the short arm of chromosome 19 is duplicated resulting in various abnormalities.
• Chromosome 19q, partial duplication: A rare chromosomal disorder where the long arm of chromosome is triplicated. The type and severity of symptoms is determined by the size of the duplicated genetic portion.
• Chromosome 1p deletion syndrome: A rare chromosomal disorder where part or all of the short arm (p) of chromosome 1 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
• Chromosome 1p duplication syndrome: A rare chromosomal disorder where a portion of the short arm (p) of chromosome 1 is duplicated so there is three copies of it rather than the normal two.
• Chromosome 1q deletion: A rare chromosomal disorder where part of the long arm (q) of chromosome 1 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
• Chromosome 1q duplication syndrome: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 1 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
• Chromosome 2 trisomy syndrome: A rare chromosomal disorder where there are three copies of chromosome 2 instead of the normal two.
• Chromosome 2, monosomy 2q: A rare chromosomal disorder where part of the long arm (q) of chromosome 2 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
• Chromosome 2, monosomy 2q24: A genetic disorder characterized by the deletion of a portion of the long arm of chromosome 2.
• Chromosome 2, monosomy 2q37: A very rare chromosomal disorder where a part of the long arm of chromosome 2 is missing which results in various birth defects and abnormalities. The features of the disorder are determined by the exact size and location of the deletion.
• Chromosome 2, trisomy 2p: A rare chromosomal disorder where a portion of the short arm (p) of chromosome 2 is duplicated so there is three copies of it rather than the normal two.
• Chromosome 2, trisomy 2q: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 2 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
• Chromosome 20 ring: A rare chromosomal disorder where genetic material from one or both ends of chromosome 20 is missing and the two broken ends have rejoined to form a ring. The resulting type and severity of symptoms is determined by the amount and location of genetic material missing.
• Chromosome 20, deletion 20p: A rare chromosomal disorder where the short arm (p) of chromosome 20 is deleted resulting in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is deleted.
• Chromosome 20p deletion syndrome: A rare chromosomal disorder where the short arm (p) of chromosome 20 is deleted resulting in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is deleted.
• Chromosome 21 monosomy: A rare chromosomal disorder where there is only one copy of chromosome 21 instead of the normal two leading to various abnormalities.
• Chromosome 21q deletion syndrome: A rare genetic disorder where a portion of the genetic material from the long arm of chromosome 21 is missing. The symptoms or severity may vary somewhat between patients.
• Chromosome 21q, partial deletion: A rare chromosomal disorder where a portion of the long arm of chromosome 21 is deleted.
• Chromosome 22 suprenumerary marker: A rare chromosomal disorder involving structural abnormalities of chromosome 22 and are more prevalent in children born to older mothers.
• Chromosome 22 trisomy mosaic: A rare chromosomal disorder where three copies of chromosome 22 are present in some of the body's cells instead of the normal two. Severity of symptoms is determined by how many cells have the extra chromosomal material.
• Chromosome 22, microdeletion 22q11: A rare chromosomal disorder where a portion of the long arm of chromosome 22 is deleted.
• Chromosome 22, monosome mosaic: A very rare chromosomal disorder where one copy of chromosome 22 occurs in some of the body's cells and results in various anomalies. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is deleted.
• Chromosome 22, monosomy mosaic: A very rare chromosomal disorder where one copy of chromosome 22 occurs in some of the body's cells and results in various anomalies.
• Chromosome 22, trisomy: A very rare disorder where there is an extra copy of chromosome 22 in all the body cells. The condition is usually fatal soon after birth or during the fetal stage.
• Chromosome 22q deletion: A rare genetic disorder where a portion of the genetic material from the long arm of chromosome 22 is missing. The symptoms or severity may vary somewhat between patients.
• Chromosome 22q deletion syndrome: A rare chromosomal disorder where the long arm of chromosome 22 is deleted resulting in various abnormalities.
• Chromosome 22q duplication syndrome: A rare chromosomal disorder where the long arm of chromosome 22 is duplicated.
• Chromosome 22q11.2 deletion syndrome: A rare genetic disorder caused by the absence of a small portion of genetic material. A small section of chromosome 22 is missing at a location called q11.2. Chromosome 22 is one of 23 pairs of chromosomes that exist in humans.
• Chromosome 22q11.2 microduplication: A rare chromosomal disorder where a part of the chromosome 22 genetic material at the q11.2 location is duplicated resulting in various anomalies ranging from mild to severe amongst different patients.
• Chromosome 22q13 deletion: A very rare chromosomal disorder where a portion of chromosome 22 is missing at the q13 location which results in various abnormalities.
• Chromosome 22q13.3 deletion syndrome: A very rare chromosomal disorder where a portion of chromosome 22 is missing at the q13.3 location which results in various abnormalities.
• Chromosome 2p deletion syndrome: A rare chromosomal disorder where part or all of the short arm (p) of chromosome 2 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
• Chromosome 2p duplication syndrome: A rare chromosomal disorder where a portion of the short arm (p) of chromosome 2 is duplicated so there is three copies of it rather than the normal two.
• Chromosome 2q duplication syndrome: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 2 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
• Chromosome 3, Monosomy 3p2: A very rare chromosomal disorder involving the deletion of the end portion of short arm of chromosome 3. Symptoms vary according to the exact size and location of the deletion.
• Chromosome 3, Trisomy 3q2: A rare chromosomal disorder involving the duplication of a portion of the long arm of chromosome 3. The symptoms are determined by the size and exact location of the duplicated portion.
• Chromosome 3, monosomy 3p25: A rare chromosomal disorder characterized by mental retardation, short stature, deafness, extra digits, facial anomalies and various other abnormalities.
• Chromosome 3, trisomy 3p: A rare chromosomal disorder where a portion of the short arm (p) of chromosome 3 is duplicated so there is three copies of it rather than the normal two.
• Chromosome 3, trisomy 3q: A rare chromosomal disorder where a portion of the long arm (q) of chromosome 3 is duplicated so there is three copies of it rather than the normal two. The condition is characterized by mental and growth deficiency, broad nose root and excessive hair growth.
• Chromosome 4 ring syndrome: A rare chromosomal disorder where the ends of chromosome 4 have been deleted and the two broken ends have rejoined to form a ring shape resulting in a range of symptoms determined by the size and location of the genetic deletion.
• Chromosome 4 short arm deletion: A rare chromosomal disorder where part or all of the short arm (p) of chromosome 4 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
• Chromosome 4, Monosomy 4q: A rare chromosomal disorder where a portion of the long arm (q) of chromosome 4 is missing resulting in various abnormalities.
• Chromosome 4, Monosomy Distal 4q: A rare chromosomal disorder involving a deletion of the end portion of the long arm of chromosome 4. The symptoms are determined by the size and exact location of the deleted portion.
• Chromosome 4, partial trisomy distal 4q: A rare chromosomal disorder involving the duplication of the end portion of the long arm of chromosome 4. The symptoms are determined by the size and exact location of the duplicated portion.
• Chromosome 4, trisomy 4p: A rare chromosomal disorder where a portion of chromosome four is duplicated so there is three copies of it instead of the normal two.
• Chromosome 4, trisomy 4q: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 4 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
• Chromosome 4, trisomy 4q25 qter: A rare chromosomal disorder involving the duplication of a portion of the long arm of chromosome 4.
• Chromosome 4p deletion syndrome: A rare chromosomal disorder where part or all of the short arm (p) of chromosome 4 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
• Chromosome 4p15-16 deletion syndrome: A rare chromosomal disorder where part of the short arm (p15-16) of chromosome 4 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
• Chromosome 4q duplication syndrome: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 4 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
• Chromosome 5, Trisomy 5p: A rare chromosomal disorder where there are three copies of all or part of the short arm (p) of chromosome 5 rather than the normal two. The type and severity of symptoms is determined by the location and size of the genetic material duplicated.
• Chromosome 5, monosomy 5q35: A very rare chromosomal disorder whose symptoms are variable but often include facial anomalies, skull malformations, developmental delay and heart defects.
• Chromosome 5, trisomy 5q: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 5 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
• Chromosome 5p duplication syndrome: A rare chromosomal disorder where there are three copies of all or part of the short arm (p) of chromosome 5 rather than the normal two. The type and severity of symptoms is determined by the location and size of the genetic material duplicated.
• Chromosome 5p tetrasomy syndrome: A rare chromosomal disorder where there are four copies of the short arm (p) of chromosome 5 rather than the normal two copies.
• Chromosome 5q duplication syndrome: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 5 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
• Chromosome 6 ring syndrome: A rare chromosomal disorder where the ends of chromosome 6 have been deleted and the two broken ends have rejoined to form a ring shape resulting in a range of symptoms determined by the size of the genetic deletion.
• Chromosome 6, monosomy 6q: A rare chromosomal disorder where a part of the long arm (q) of chromosome 6 is deleted resulting in various abnormalities depending on the location and length of missing genetic material.
• Chromosome 6, monosomy 6q1: A rare chromosomal disorder involving the deletion of a portion of the long arm of chromosome 6.
• Chromosome 6, partial trisomy 6q: Partial Trisomy 6q is a very rare genetic disorder where there are three copies of a portion of chromosome 6 in the cells of the body instead of the normal two. The range and severity of symptoms is variable.
• Chromosome 6, trisomy 6p: A very rare chromosomal disorder where a part of the short arm (p) of chromosome 6 is duplicated resulting in various abnormalities depending on the location and length of missing genetic material.
• Chromosome 6, trisomy 6q: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 6 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
• Chromosome 6p deletion syndrome: A rare chromosomal disorder where part or all of the short arm (p) of chromosome 6 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
• Chromosome 6q deletion syndrome: A rare chromosomal disorder where a part of the long arm (q) of chromosome 6 is deleted resulting in various abnormalities depending on the location and length of missing genetic material.
• Chromosome 6q duplication syndrome: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 6 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
• Chromosome 7 deletion p21-p22.1: A chromosomal disorder where a small portion of chromosome 7 is deleted which results in a range of abnormalities.
• Chromosome 7 deletion p21.1-p22.1: A chromosomal disorder where a small portion of chromosome 7 is deleted which results in a range of abnormalities.
• Chromosome 7 deletion p22.2-p22.1: A chromosomal disorder where a small portion of chromosome 7 is deleted which results in a range of abnormalities.
• Chromosome 7 ring syndrome: A rare chromosomal disorder where the ends of chromosome 7 have been deleted and the two broken ends have rejoined to form a ring shape resulting in a range of symptoms determined by the size of the genetic deletion.
• Chromosome 7, Monosomy 7p2: A rare chromosomal disorder where there is one copy of the end of the short arm (p) of chromosome 7 rather than the normal two. The type and severity of symptoms is determined by the location and size of the genetic material deleted.
• Chromosome 7, Partial Deletion of Short Arm: A rare chromosomal disorder where part of the short arm (p) of chromosome 7 is deleted resulting in various abnormalities which are determined by the size and location of the deleted portion.
• Chromosome 7, partial monosomy 7p: A rare chromosomal disorder where part of the short arm (p) of chromosome 7 is deleted resulting in various abnormalities which are determined by the size and location of the deleted portion.
• Chromosome 7, terminal 7p deletion: A rare chromosomal disorder where there is one copy of the end of the short arm (p) of chromosome 7 rather than the normal two. The type and severity of symptoms is determined by the location and size of the genetic material deleted.
• Chromosome 7, trisomy 7q: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 7 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
• Chromosome 7, trisomy mosaic: A very rare chromosomal disorder where there is an extra copy of chromosome 7 in some of the body's cells. Most cases with this chromosomal abnormality have no clinical symptoms. The presence of abnormalities in some cases is dependent on which body cells contain the chromosomal defect.
• Chromosome 7p deletion syndrome: A rare chromosomal disorder where part or all of the short arm (p) of chromosome 7 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
• Chromosome 7q duplication syndrome: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 7 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
• Chromosome 8 deletion: A rare chromosomal disorder where there is only one copy of the genetic material of part of chromosome 8 rather than the normal two which results in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is missing.
• Chromosome 8 recombinant syndrome: A rare recombinant chromosomal disorder involving chromosome 8 which results in various abnormalities.
• Chromosome 8, Monosomy 8p2: A rare chromosomal disorder where there is one copy of part of the short arm (p) of chromosome 8 rather than the normal two. The type and severity of symptoms is determined by the location and size of the genetic material deleted.
• Chromosome 8, Monosomy 8p21-pter: A rare chromosomal disorder where there is one copy of part of the short arm (p) of chromosome 8 rather than the normal two. The type and severity of symptoms is determined by the location and size of the genetic material deleted.
• Chromosome 8, monosomy 8p: A rare chromosomal disorder involving deletion of genetic material from the short arm (p) of chromosome 8 resulting in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is deleted.
• Chromosome 8, monosomy 8p23.1: A rare chromosomal disorder involving the deletion of a portion of the short arm of chromosome 8. The symptoms are determined by the size and exact location of the deleted portion.
• Chromosome 8, monosomy 8q: A rare chromosomal disorder involving deletion of the long arm (q) of chromosome 8 resulting in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is deleted.
• Chromosome 8, mosaic trisomy: A very rare chromosomal disorder where there is an extra copy of chromosome 8 in some of the body's cells. Some cases with this chromosomal abnormality have no clinical symptoms. The presence of abnormalities in some cases is dependent on which body cells contain the chromosomal defect.
• Chromosome 8, partial trisomy: A rare chromosomal disorder where there are three copies of part of chromosome 8 rather than the normal two which results in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is duplicated.
• Chromosome 8, trisomy: A rare chromosomal disorder where there are three copies of chromosome 8 rather than the normal two which results in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is duplicated.
• Chromosome 8, trisomy 8p: A rare chromosomal disorder where the short arm (p) of chromosome 8 is duplicated resulting in three copies instead of two. The type and severity of symptoms depends on the location and length of genetic material duplicated.
• Chromosome 8, trisomy 8q: A rare chromosomal disorder where the long arm (q) of chromosome 8 is duplicated resulting in variable abnormalities depending on the location and length of genetic material deleted.
• Chromosome 8p deletion syndrome: A rare chromosomal disorder involving deletion of the short arm (p) of chromosome 8 resulting in various abnormalities.
• Chromosome 8p duplication syndrome: A rare chromosomal disorder where the short arm (p) of chromosome 8 is duplicated resulting in three copies instead of two. The type and severity of symptoms depends on the location and length of genetic material duplicated.
• Chromosome 8p inverted duplication syndrome: A rare chromosomal disorder involving the inverted duplication of the short arm (p) of chromosome 8 resulting in three copies of the genetic material instead of the normal two. The type and severity of symptoms is determined by the location and size of the duplication.
• Chromosome 8p mosaic tetrasomy: A rare chromosomal disorder where a part of the short arm of chromosome 8 is repeated four times in some of the body's cells instead of the normal two resulting in various abnormalities.
• Chromosome 8q deletion syndrome: A rare chromosomal disorder where a part of the long arm (q) of chromosome 8 is deleted resulting in various abnormalities depending on the location and length of missing genetic material.
• Chromosome 8q duplication syndrome: A rare chromosomal disorder where the long arm (q) of chromosome 8 is duplicated resulting in variable abnormalities depending on the location and length of genetic material deleted.
• Chromosome 9 Ring: A rare chromosomal abnormality where genetic material from the two ends is missing and the two ends rejoin to form a ring. The symptoms are determined by the size and exact location of the deleted portion.
• Chromosome 9 inversion or duplication: A very rare genetic disorder where a portion of chromosome 9 is inverted or duplicated which results in various abnormalities. The type and severity of symptoms varies depending on the size and location of the genetic material involved.
• Chromosome 9 trisomy syndrome: A rare chromosomal disorder where there are three copies of chromosome 9 in the body's cells instead of the normal two resulting in various abnormalities.
• Chromosome 9, Trisomy 9p (Multiple Variants): A rare chromosomal disorder characterized by mental retardation, head and face malformations and various other abnormalities.
• Chromosome 9, monosomy 9p: A rare chromosomal disorder where a portion of the short arm (p) of chromosome 9 is missing resulting in various abnormalities.
• Chromosome 9, partial trisomy 9p: A very rare genetic disorder where a portion of the genetic material on the short arm (p) of chromosome 9 is duplicated which results in various abnormalities. The type and severity of symptoms varies depending on the size and location of the genetic material involved.
• Chromosome 9, trisomy: A rare chromosomal disorder where there are three copies of chromosome 9 in the body's cells instead of the normal two resulting in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is duplicated.
• Chromosome 9, trisomy 9p: A rare chromosomal disorder where a portion of the short arm (p) of chromosome 9 is duplicated so there is three copies of it instead of the normal two.
• Chromosome 9, trisomy 9q: A very rare genetic disorder where a portion of the genetic material on the long arm (q) of chromosome 9 is duplicated which results in various abnormalities. The type and severity of symptoms varies depending on the size and location of the genetic material involved.
• Chromosome 9/mosaic: A rare chromosomal disorder where chromosome 9 is duplicated in some of the body's cells resulting in various abnormalities determined by the type and number of cells that contain the extra genetic material.
• Chromosome 9p tetrasomy syndrome: A rare chromosomal disorder where there is four copies of the short arm of chromosome 9 instead of the normal two resulting in various abnormalities.
• Chromosome 9q deletion syndrome: A rare chromosomal disorder where the long arm (q) of chromosome 9 is deleted resulting in variable symptoms.
• Chromosome 9q duplication: A very rare genetic disorder where a portion of the genetic material on the long arm (q) of chromosome 9 is duplicated which results in various abnormalities. The type and severity of symptoms varies depending on the size and location of the genetic material involved.
• Chromosome 9q duplication syndrome: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 9 resulting in various abnormalities.
• Chromosome diploid-triploid mosaicism syndrome: A rare chromosomal disorder involving chromosomal duplication, triplication and mosaicism.
• Chromosomes 1 and 2, monosomy 2q duplication 1p: A very rare chromosomal disorder where a portion of chromosome 2q shifts to chromosome 1p resulting in duplication of chromosome 1p and deletion of chromosome 2q. The defect results in various abnormalities including retarded fetal growth, small head and skeletal and facial defects.
• Chronic Alcoholism - Teratogenic Agent: There is strong evidence to indicate that chronic alcoholism during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Chronic vitamin A toxicity: Chronic excessive ingestion of vitamin A can cause symptoms.
• Chuifong tokuwan-induced lead poisoning: Chuifong tokuwan is a folk remedy used mainly by Asian people to arthritis and other pain. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
• Chylomicron Retention Disease: A rare condition characterized by the inability of the intestines to absorb fats from the diet which cause failure to thrive in infants.
• Chédiak-Higashi syndrome: An inherited immune system disorder characterized by reduced pigmentation, recurrent infection and neurological disorders.
• Ciclosporin - Teratogenic Agent: There is evidence to indicate that exposure to Ciclosporin (an immunosuppressant drug) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Clarithromycin - Teratogenic Agent: There is evidence to indicate that exposure to Clarithromycin (an antibiotic) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Classic Distal Renal Tubular Acidosis: A condition which is characterized by the formation of an acidosis due to a problem with the renal distal tubule
• Classic childhood ALD: Classic severe form of ALD in boys.
• Classical pyridoxine-dependent seizures: A form of epilepsy which responds to pyridoxine hydrochloride administration and not to standard anticonvulsant medication.
• Cleft lip - palate - mental retardation - corneal opacity: A very rare syndrome characterized mainly by mental retardation, cleft lip and palate and cloudy corneas.
• Cleft lip palate pituitary deficiency: A very rare disorder characterized by a cleft lip and palate as well as deficient pituitary gland activity which affects hormone levels. The clefts and the pituitary abnormality are considered to be midline defects.
• Cleft palate - cardiac defect - genital anomalies - ectrodactyly: A very rare syndrome characterized by variable symptoms including cleft palate, heart defects, genital anomalies and hand and foot malformations.
• Cleft palate - short stature - vertebral anomalies: A very rare syndrome characterized by a cleft palate, short stature and abnormalities of the vertebrae in the spine.
• Cleft palate, bilateral choanal atresia, curly hair and congenital hypothyroidism: A rare syndrome characterized by the association of curly, choanal atresia, cleft palate and congenital hypothyroidism.
• Clindamycin - Teratogenic Agent: There is evidence to indicate that exposure to Clindamycin (an antibiotic) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Clonazepam - Teratogenic Agent: There is evidence to indicate that exposure to Clonazepam during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Cocaine - Teratogenic Agent: There is evidence to indicate that exposure to Cocaine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Cocaine addiction: An uncontrollable desire to use cocaine on a regular basis. Chronic cocaine use can lead to dependency in as little as two weeks. Frequent use leads to an increased tolerance to the drug so higher and higher doses are required to achieve the desired euphoric feeling.
• Coenzyme Q 10 (CoQ10), deficiency: A rare inherited disorder characterized by the deficiency of Coenzyme Q 10. The range and severity of symptoms is variable.
• Coenzyme Q cytochrome c reductase deficiency of: A rare genetic defect where an enzyme deficiency (CoQ-Cytochrome C reductase) disrupts cellular processes. Any of a variety of the components of the enzyme may be missing or defective and hence the clinical presentation and severity may vary. The deficiency may result in a variety of symptoms and conditions of variable severity such as cardiomyopathy, fatal infant conditions and Leber's myopathy.
• Coffin syndrome 1: A rare inherited syndrome characterized mainly by spasticity, seizures, congenital heart defects, short stature and delayed mental and motor development.
• Coffin-Lowry syndrome: A rare genetic disorder characterized by down slanting space between eyelids, bulbous nose, soft hands and tapering fingers.
• Coffin-Siris Syndrome: A rare genetic disorder characterized by underdeveloped or absent fifth finger and toenails and coarse facial features.
• Collagenous celiac disease: Collagenous celiac disease is used to describe progressive celiac disease characterized by the presence of a layer of collagen (scarring) in the intestinal layers. This form of celiac disease usually fails to respond to treatments such as gluten-free diets. Celiac disease is an autoimmune disorder characterized by intolerance to gluten by the small intestine. The condition usually fails to respond to treatment and has a poor prognosis.
• Coloboma uveal with cleft lip palate and mental retardation: A very rare syndrome characterized by a cleft lip and palate, mental retardation and a gap or hole in the iris or uvea of the eye (iris or uveal coloboma).
• Coloboma, cleft lip/palate and mental retardation syndrome: A very rare syndrome characterized by a cleft lip and palate, mental retardation and a gap or hole in the iris or uvea of the eye (iris or uveal coloboma).
• Combined pituitary hormone deficiency, non acquired, non syndromic: Deficiency of more than one pituitary hormone not associated with any other malformations or abnormalities. The condition may be due to a genetic defect or the result of tumors, surgery or radiation therapies. Symptoms can vary considerable depending on which hormones are affected.
• Common ventricle: A congenital heart defect where the wall separating the two heart ventricles is completely missing.
• Complex 1 mitochondrial respiratory chain deficiency: A rare genetic defect where an enzyme deficiency (NADH CoQ) disrupts cellular processes and causes various organic acid disorders. Any of a variety of the components of the enzyme may be missing or defective and hence the clinical presentation and severity may vary. Presentation may range from infantile death to various disorders such as Leigh's disease, Parkinson's disease and cardiomyopathy.
• Complex 5 mitochondrial respiratory chain deficiency: A rare genetic defect where an enzyme deficiency (ATP synthetase) disrupts cellular processes. Any of a variety of the components of the enzyme may be missing or defective and hence the clinical presentation and severity may vary. The deficiency may result in a variety of symptoms and conditions of variable severity such as Leber's myopathy, Leigh syndrome, cardiomyopathy and NARP (neuropathy, ataxia, retinitis pigmentosa).
• Congenital Disorders of Glycosylation: Congenital disorders of glycosylation is a group of disorders involving abnormally synthesis of N-linked oligosaccharides. There is a long chain of events involved in the synthesis and defects may occur with any of the compounds or enzymes involved in the process. Progressive impairment and regression of skills often occurs after a period of normal development following birth.
• Congenital Hemidysplasia with Ichthyosiform erythroderma and Limbs Defects: A rare genetic disorder characterized by unilateral hypomelia, underdeveloped skin and heart defects.
• Congenital Malabsorptive Diarrhea, 4: A congenital condition characterized by diarrhea and malabsorption resulting form a reduced number of enteroendocrine cells. Enteroendocrine cells are found mainly in the pancreas but also in the gastrointestinal tract and they produce various hormones needed for processes such as digestion.
• Congenital X-linked retinoschisis: An inherited eye condition where degenerative changes in the eye causes the retina to split. The severity and age of onset of symptoms can vary.
• Congenital adrenal hyperplasia - simple virilizing form in females: A group of disorder that occur when a deficiency of 21-hydroxylase impairs the normal process of making adrenal corticosteroids. The simple virilizing form involves a moderate deficiency of 21-hydroxylase and differs in its effects on males and females.
• Congenital cardiovascular malformations: The abnormal development of heart blood vessels. Specific examples of this condition includes hypoplastic left heart syndrome, coarctation and tricuspid atresia.
• Congenital cytomegalovirus: Fetal infection with cytomegalovirus.
• Congenital disorder of glycosylation type 1F: Congenital disorders of glycosylation is a group of very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type IF is caused by a defect on chromosome 17p13.1-p12 and involves a defect on the MPDU1 gene.
• Congenital disorder of glycosylation type 1G: Congenital disorders of glycosylation is a group of very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type IG is caused by a defect on chromosome 22q13.33 and involves the gene for a particular enzyme (dolichyl-P-mannose:Man-7-GlcNAc-2-PP-dolichyl-alpha-6-mannosyltransferase).
• Congenital disorder of glycosylation type 1I: Congenital disorders of glycosylation is a group of very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type Ii is caused by a defect on chromosome 9q22 and involves a defect on the ALG2 gene.
• Congenital disorder of glycosylation type 1L: Congenital disorders of glycosylation is a group of very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type Il is caused by a defect on chromosome 11q23 and involves a defect in the ALG9 gene.
• Congenital disorder of glycosylation type 1M: Congenital disorders of glycosylation is a group of very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type Im is caused by a defect on chromosome 9q34.11 and involves a defect in the TMEM15 gene.
• Congenital disorder of glycosylation type 2G: Congenital disorders of glycosylation is a group of very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type IIg is caused by a defect on chromosome 17q25.1 and involves a defect on the COG1 gene.
• Congenital disorder of glycosylation, type In: A very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 1n involves a defect in the RFT1 gene and is characterized mainly by enlarged liver, seizures, developmental delay, reduced muscle tone and abnormal blood coagulation.
• Congenital hypoparathyroidism, seizures, growth and mental retardation and unusual facies: A rare syndrome characterized mainly by growth and mental retardation, seizures, unusual facial appearance and congenital hypoparathyroidism.
• Congenital short bowel: A rare birth defect where the bowel is abnormally short. A short bowel can impair the body's ability to absorb enough nutrients and hence result in malabsorption.
• Congenital sucrose-isomaltose malabsorption: A rare disorder where a congenital deficiency of an enzyme (sucrase-isomaltase) prevents the absorption of sucrase and isomaltose consumed in the diet.
• Conradi-Huenermann Syndrome: A rare genetic disorder characterized by growth deficiency, short limbs, large skin pores, sparse hair and other abnormalities.
• Conradi-Hunermann syndrome: A rare genetic disorder characterized by growth deficiency, short limbs, large skin pores, sparse hair and other abnormalities.
• Continuous spike-wave during slow sleep syndrome: A rare form of epilepsy that occurs between the ages of 3 and 7 and is diagnosed by the observation through an EEG of continuous spike and wave discharges during the slow sleep phase which is detected. The seizures often occur during sleep. Children outgrow the condition before adulthood but some of the effects of the disorder may continue longer.
• Contractures - ectodermal dysplasia - cleft lip palate: A very rare syndrome characterized by impaired joint mobility at birth, skin problems, cleft lip or palate and growth and psychomotor retardation.
• Cooley syndrome: An inherited blood disorder involving abnormal production of red blood cells which causes serious anemia. It is a severe form of thalassemia.
• Cor Triatriatum: A rare congenital malformation where the heart has three atria instead of the normal two due to the presence of a separating membrane.
• Cordiax - Teratogenic Agent: There is evidence to indicate that exposure to Cordiax (a beta-blocker medication) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Cordyceps-induced lead poisoning: Cordyceps is a folk remedy by Chinese people to treat high blood pressure, bleeding problems and diabetes. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
• Cormier Rustin Munnich syndrome: Deficiency of certain chemicals involved in the respiratory chain can result in various malformation depending on the chemical involved and the degree of deficiency.
• Cornelia de Lange syndrome 1: A very rare disorder involving delayed physical development and various malformations involving the head, face and limbs. Type 1 is more severe than type 2 though the range and severity of symptoms is variable.
• Cornelia de Lange syndrome 2: A very rare disorder involving delayed physical development and various malformations involving the head, face and limbs. Type 2 is not as severe as type 1 with some of the abnormalities not presenting until later in life or absent altogether. The range and severity of symptoms is variable.
• Corpus callosum agenesis - blepharophimosis - Robin sequence: A very rare syndrome characterized by abnormal brain development, various facial anomalies, heart defects and other symptoms.
• Corpus callosum, agenesis of, blepharophimosis Robin type: A very rare syndrome characterized by abnormal brain development, various facial anomalies, heart defects and other symptoms.
• Cortical blindness - mental retardation - polydactyly: A very rare syndrome characterized by mental retardation, extra fingers and vision loss.
• Corticosteroids - Teratogenic Agent: There is evidence to indicate that exposure to Corticosteroids during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Corticosterone Methyloxidase type I Deficiency: A very rare genetic disorder where deficiency of a particularly chemical (aldosterone synthase) results in a deficiency of aldosterone. The condition can be severe enough to cause infant death unless the patient is diagnosed and treated.
• Cote-Katsantoni syndrome: A rare condition characterized by osteosclerosis, atrial septal defect, malabsorption, neutropenia, ectodermal dysplasia, growth retardation and mental retardation.
• Coumarin Derivatives - Teratogenic Agent: There is evidence to indicate that exposure to Coumarin Derivatives during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Crack addiction: An uncontrollable desire to use crack on a regular basis. Chronic crack use can lead to dependency in as little as two weeks. Crack is a form of cocaine - powdered cocaine is heated with ammonia or sodium bicarbonate to make rocks of crack. Frequent use leads to an increased tolerance to the drug so higher and higher doses are required to achieve the desired euphoric feeling.
• Craniofacial dysostosis - arthrogryposis - progeroid appearence: A very rare syndrome characterized usually caused by fetal exposure to the cytomegalovirus and resulting in features such as short stature, mental retardation, joint movement problems and facial anomalies.
• Craniomicromelic syndrome: A very rare syndrome characterized by skull and facial abnormalities, short arms and legs and retarded fetal growth.
• Craniostenosis with congenital heart disease mental retardation: A very rare disorder characterized mainly by premature fusion of the sagittal skull bones, mental retardation and heart disease that is present at birth. The disorder generally involves other variable features.
• Craniosynostosis: A defect involving the fusion of one or more bones in the skull before it has finished growing which affects the head size and shape and can affect the growth of the brain. The defect is often associated with other conditions. Symptoms are determined by which skull bones are prematurely fused.
• Craniosynostosis - brachysyndactyly of hands and absence of toes: A rare condition characterized mainly by premature fusion of skull bones, limb defects and a cleft lip or palate.
• Craniosynostosis - congenital heart disease - mental retardation: A rare syndrome characterized mainly by heart and skull abnormalities as well as mental retardation.
• Craniosynostosis radial aplasia syndrome: A rare genetic disorder characterized by premature closing of skull bones, growth deficiency and anal, limb and urogenital craniofacial abnormalities.
• Creatine deficiency, X-linked: A rare inherited disorder characterized mainly by mental retardation, seizures, short stature and facial anomalies. The disorder is caused by the absence of a compound needed to transport creatine and thus creatine levels may be normal or high, but the body is unable to utilize it.
• Crixan - Teratogenic Agent: There is evidence to indicate that exposure to Crixan (an antibiotic) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Crystal meth addiction: An uncontrollable desire to use crystal meth on a regular basis. Crystal meth is a powerful stimulant used illegally for its effects. It is highly addictive and known by street names such as ice, speed, glass, crank and chalk. Frequent use leads to an increased tolerance to the drug so higher and higher doses are required to achieve the desired euphoric feeling.
• Cushing-like symptoms: Symptoms similar to those of Cushing's disease
• Cutis laxa, recessive type 2: A very rare syndrome characterized primarily by loose skin and delayed development.
• Cyclophosphamide - Teratogenic Agent: There is evidence to indicate that exposure to Cyclophosphamide during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Cyclosporin - Teratogenic Agent: There is evidence to indicate that exposure to Cyclosporin (an immunosuppressant drug) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Cyclosporine - Teratogenic Agent: There is evidence to indicate that exposure to Cyclosporine (an immunosuppressant drug) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Cyclothiazide - Teratogenic Agent: There is evidence to indicate that exposure to Cyclothiazide (a diuretic) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Cystic Fibrosis: Cystic fibrosis is a hereditary disease affecting the exocrine (mucus) glands of the lungs, liver, pancreas, and intestines, causing progressive disability due to multisystem failure.
• Cystinosis: A rare biochemical disorder involving the accumulation of a chemical called cystine in various parts of the body which can cause harmful effects.
• Cytochrome c oxydase deficiency, French-Canadian type: A rare, progressive, inherited metabolic disorder where a deficiency of the enzyme cytochrome C oxidase affects skeletal muscles, connective tissue, brain and liver.
• Cytomegalovirus - Teratogenic Agent: There is strong evidence to indicate that the development of Cytomegalovirus during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the stage of pregnancy that the exposure occurred at.
• D ercole syndrome: A very rare syndrome characterized mainly by short stature, small head and heart defects.
• DEND syndrome: An inherited disorder characterized by developmental delay, epilepsy and diabetes.
• Dandy Walker syndrome recessive form: A rare recessively inherited brain malformation where a cyst develops in the brain which can interfere with the drainage of cerebrospinal fluid and lead to hydrocephalus. The severity of the condition is variable and symptoms tend to only occur if the fluid builds up inside the skull.
• Dandy-Walker - facial hemangioma: A very rare syndrome characterized mainly by a brain malformation (Dandy-Walker) and a hemangioma on the face (mass of dilated blood vessels).
• Dandy-Walker Syndrome: A congenital brain malformation characterized by increased fluid in the brain.
• De Lange 1: A rare disorder involving a variety of congenital abnormalities including retarded growth, behavioral problems, characteristic facial features and upper limb abnormalities.
• De Sanctis-Cacchione syndrome: A rare genetic ectodermal disorder characterized by sunlight sensitivity, skin atrophy and pigmentation and skin tumors as well asneurologic involvement.
• Deafness: Partial or complete hearing loss
• Deafness - cataracts - skeletal anomalies: A rare disorder characterized by deafness, cataracts and skeletal abnormalities as well as other anomalies.
• Deafness-tubular acidosis-anaemia: A rare disorder characterized mainly by abnormal progressive calcification of the spinal cord and brain, kidney anomaly, anemia and deafness.
• Deal-Barratt-Dillon syndrome: A very rare syndrome characterized mainly by scaly skin, jaundice, diarrhea and Fanconi syndrome (bone marrow fails to make sufficient new blood cells).
• Debler anemia: A familial type of anemia that starts during infancy and involves the premature destruction of red blood cells.
• Deficiency of Member 8 Acyl-CoA Dehydrogenace Family: An extremely rare metabolic disorder where the body is unable to metabolize certain proteins properly. More specifically, an insufficient level of the enzyme (isobutyryl-coenzyme A dehydrogenase) needed to metabolize the amino acid valine. The onset and severity of symptoms is variable.
• Del(1) (23-q25): A very rare chromosomal disorder where a portion of the long arm (23q-q25) of chromosome one is missing.
• Del(1) (p22.3-p13.3): A very rare chromosomal disorder where a portion of the short arm (p22.3-p13.3) of chromosome one is missing. The type and severity of symptoms is variable.
• Del(1) (p36.1-p34.1): A very rare chromosomal disorder where a portion of the short arm (p36.1-p34.1) of chromosome one is missing. The type and severity of symptoms is variable.
• Del(1) (p36.2-p36.1): A very rare chromosomal disorder where a portion of the short arm (p36.2-p36.1) of chromosome one is missing. The type and severity of symptoms is variable.
• Del(1) (pter-p36.2): A very rare chromosomal disorder where the end portion of the short arm of chromosome one is missing. The type and severity of symptoms is variable.
• Del(1) (q25-q32): A very rare chromosomal disorder where a portion of the long arm (q25-q32) of chromosome one is missing. The range and severity of symptoms is variable.
• Del(1) (q32-q41): A very rare chromosomal disorder where a portion of the long arm (q32-q41) of chromosome one is missing.
• Del(1) (q43-qter) & dup (22) (pter-q13): A very rare chromosomal disorder where a portion of the long arm (q43-qter) & dup (22) (pter-q13) of chromosome one is missing. The type and severity of symptoms is variable.
• Deletion 10pter: A very rare syndrome caused by a chromosomal defect (10p terminal deletion) and can result in a variety of malformations that are similar to DiGeorge syndrome and velocardiofacial syndrome.
• Deletion 10q: A rare disorder caused by the deletion of a portion of chromosome 10q. The range and severity of symptoms is determined by the size of the portion that is deleted.
• Deletion 11p: A syndrome that is caused by the deletion of short arm (p) of chromosome 11. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is deleted.
• Deletion 11q: A very rare genetic disorder characterized by the deletion of genetic material from the long arm (q) of chromosome 11 - the genetic material occurs only once in body cells instead of the normal two. The type and severity of symptoms may vary considerably depending on the exact location and size of the deleted genetic material.
• Deletion 13q: A rare chromosomal disorder where the long arm (q) of chromosome 13 is deleted resulting in various physical, neurological and developmental abnormalities. The type and severity of symptoms is determined by the amount and location of the deleted genetic material.
• Deletion 13q32: A rare chromosomal disorder where a portion of the long arm (q32) of chromosome 13 is deleted resulting in various physical, neurological and developmental abnormalities. The type and severity of symptoms can vary amongst patients.
• Deletion 20p: A rare chromosomal disorder where the short arm (p) of chromosome 20 is deleted resulting in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is deleted.
• Deletion 22q11: A rare chromosomal disorder where a small piece of genetic material is missing from chromosome 22 at the q11 location.
• Deletion 22q13: A very rare chromosomal disorder where a portion of chromosome 22 is missing at the q13 location which results in various abnormalities.
• Deletion 2q: A rare chromosomal disorder where part of the long arm (q) of chromosome 2 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
• Deletion 2q24: A genetic disorder characterized by the deletion of a portion of the long arm of chromosome 2.
• Deletion 4p: A rare chromosomal disorder where part or all of the short arm (p) of chromosome 4 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
• Deletion 5p: A rare chromosomal disorder involving deletion of the genetic material from the short arm (p) of chromosome 5 which results in various abnormalities. The resulting condition is often called Cri-du-Chat Syndrome and features may vary somewhat depending on the size and location of the portion of duplicated genetic material.
• Deletion 6q: A rare chromosomal disorder where a part of the long arm (q) of chromosome 6 is deleted resulting in various abnormalities depending on the location and length of missing genetic material.
• Deletion 8p: A rare chromosomal disorder involving deletion of genetic material from the short arm (p) of chromosome 8 resulting in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is deleted.
• Deletion 8q: A rare chromosomal disorder involving deletion of the long arm (q) of chromosome 8 resulting in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is deleted.
• Deletions of chromosome 8: A rare chromosomal disorder where there is only one copy of the genetic material of part of chromosome 8 rather than the normal two which results in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is missing.
• Dentatorubral Pallidoluysian Atrophy: A condition caused by an abnormality of the DNA sequence on chromosome 12
• Depressive disorders: Depression or its various related conditions.
• Depressive symptoms: Inappropriate depressed mood.
• Desbuquois dysplasia: A rare condition characterized by short-limbed dwarfism, characteristic facial features and skeletal abnormalities.
• Desbuquois dysplasia-like syndrome: A rare syndrome characterized by various anomalies similar to Desbuquois syndrome but there is no mental retardation, hand abnormalities or facial anomalies involved.
• Deshi Dewa-induced lead poisoning: Deshi Dewa is a folk remedy by Indian people as a fertility medicine. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
• Desmosterolosis: A rare condition characterized by abnormal cholesterol biosynthesis where one of the intermediate products of cholesterol synthesis (desmosterol) is deposited in the body (plasma and other tissues). The condition also involves variable congenital anomalies which can be lethal in some cases.
• Developmental delay - epilepsy - neonatal diabetes: A rare syndrome characterized mainly by developmental delay, epilepsy and early-onset diabetes.
• Developmental delay due to 2-methylbutyryl-CoA dehydrogenase deficiency: A very rare genetic disorder where an enzyme deficiency prevents the break down of certain proteins into energy and results in a harmful accumulation of acids in the blood and body tissues. More specifically, there is a deficiency of an enzyme (2-methylbutyryl-coenzyme A dehydrogenase) needed to convert the amino acid isoleucine into energy. 2-methylbutyrylglycine levels build up in the body and may cause damage. Symptoms vary according to the degree of enzyme deficiency - can range from asymptomatic to life-threatening.
• Developmental problems: Physical or mental development difficulty.
• Dexamethasone - Teratogenic Agent: There is evidence to indicate that exposure to Dexamethasone during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Dextroamphetamine - Teratogenic Agent: There is evidence to indicate that exposure to Dextroamphetamine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Dextromethorphan - Teratogenic Agent: There is evidence to indicate that exposure to Dextromethorphan (an antitussive drug) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• DiGeorge syndrome: 22q11.2 deletion syndrome is a genetic disorder which can result in a vast array of symptoms. Various names have been used to describe different manifestations of the syndrome. Di George Syndrome primarily involves an underdeveloped thymus and parathyroid glands which results in lowered immunity low blood calcium levels respectively. Another primary feature is heart defects. Various other variable features are also present. It is not uncommon for patients to have more than one of the 22q11.2 deletion syndrome subtypes which can make diagnosis confusing - other subtypes include Sphrintzen syndrome, Caylor cardiofacial syndrome and CATCH 22.
• DiGeorge's syndrome: Rare form of primary immune deficiency
• Diabetes insipidus, diabetes mellitus, optic atrophy: A rare association of diabetes insipidus, diabetes mellitus, optic atrophy, and deafness.
• Diabetes mellitus, permanent neonatal - pancreatic and cerebellar agenesis: A rare syndrome characterized by the abnormal development of the cerebellum and pancreas which results in diabetes mellitus.
• Diabetes, neonatal - congenital hypothyroidism - congenital glaucoma - hepatic fibrosis - polycystic kidneys: A rare syndrome characterized by the presence of diabetes, hypothyroidism, liver fibrosis, polycystic kidneys and glaucoma in infants.
• Diamond-Blackfan anemia: Diamond-Blackfan anemia is a rare genetic condition where the bone marrow is unable to make sufficient red blood cells which leads low levels of red blood cells. There are eight subtypes of the condition which differ in the location of the genetic defect and the incidence of additional symptoms such as malformations. The severity of symptoms is variable but most cases are serious.
• Diamond-Blackfan anemia 1: Diamond-Blackfan anemia is a rare genetic condition where the bone marrow is unable to make sufficient red blood cells which leads low levels of red blood cells. There are eight subtypes of the condition which differ in the location of the genetic defect and the incidence of additional symptoms such as malformations. Type 1 is caused by a defect on the RPS19 gene located on chromosome 18q13.2.
• Diamond-Blackfan anemia 2: Diamond-Blackfan anemia is a rare genetic condition where the bone marrow is unable to make sufficient red blood cells which leads low levels of red blood cells. There are eight subtypes of the condition which differ in the location of the genetic defect and the incidence of additional symptoms such as malformations. Type 2 is caused by a defect on chromosome 19q13.2.
• Diamond-Blackfan anemia 3: Diamond-Blackfan anemia is a rare genetic condition where the bone marrow is unable to make sufficient red blood cells which leads low levels of red blood cells. There are eight subtypes of the condition which differ in the location of the genetic defect and the incidence of additional symptoms such as malformations. Type 3 is caused by a defect on the RPS24 gene located on chromosome 10q22-q23.
• Diamond-Blackfan anemia 4: Diamond-Blackfan anemia is a rare genetic condition where the bone marrow is unable to make sufficient red blood cells which leads low levels of red blood cells. There are eight subtypes of the condition which differ in the location of the genetic defect and the incidence of additional symptoms such as malformations. Type 4 is caused by a defect on the RPS17 gene located on chromosome 15q.
• Diamond-Blackfan anemia 5: Diamond-Blackfan anemia is a rare genetic condition where the bone marrow is unable to make sufficient red blood cells which leads low levels of red blood cells. There are eight subtypes of the condition which differ in the location of the genetic defect and the incidence of additional symptoms such as malformations. Type 5 is caused by a defect on the RPL35A gene located on chromosome 3q29-qter.
• Diamond-Blackfan anemia 6: Diamond-Blackfan anemia is a rare genetic condition where the bone marrow is unable to make sufficient red blood cells which leads low levels of red blood cells. There are eight subtypes of the condition which differ in the location of the genetic defect and the incidence of additional symptoms such as malformations. Type 6 is caused by a defect on the RPL5 gene located on chromosome 1p22.1.
• Diamond-Blackfan anemia 7: Diamond-Blackfan anemia is a rare genetic condition where the bone marrow is unable to make sufficient red blood cells which leads low levels of red blood cells. There are eight subtypes of the condition which differ in the location of the genetic defect and the incidence of additional symptoms such as malformations. Type 7 is caused by a defect on the RPL11 gene located on chromosome 1p36.1-p35.
• Diamond-Blackfan anemia 8: Diamond-Blackfan anemia is a rare genetic condition where the bone marrow is unable to make sufficient red blood cells which leads low levels of red blood cells. There are eight subtypes of the condition which differ in the location of the genetic defect and the incidence of additional symptoms such as malformations. Type 8 is caused by a defect on the RPS7 gene on chromosome 2p25.
• Diaphanospondylodysostosis: A rare disorder characterized by bone formation anomalies including a lack of bone formation in the spine during the fetal stage as well as kidney problems.
• Diarrhea chronic with villous atrophy: A very rare metabolic disorder which causes abnormalities in the intestinal lining which results in chronic diarrhea. The reported patients died at 12 years of age and suffered a variety of other problems.
• Diazepam - Teratogenic Agent: There is evidence to indicate that exposure to Diazepam during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Diazepam overdose - Teratogenic Agent: There is evidence to indicate that exposure to Diazepam overdose during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Dicoumarol - Teratogenic Agent: There is evidence to indicate that exposure to Dicoumarol during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Dicumarol - Teratogenic Agent: There is evidence to indicate that exposure to Dicumarol during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Digitalis - Teratogenic Agent: There is evidence to indicate that exposure to Digitalis (a heart drug) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Digoxin - Teratogenic Agent: There is evidence to indicate that exposure to Digoxin (a heart drug) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Dionisi-Vici-Sabetta-Gambarara syndrome: A very rare syndrome characterized mainly by brain abnormality, cataract and immunodeficiency.
• Diphenadione - Teratogenic Agent: There is evidence to indicate that exposure to Diphenadione during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Distal trisomy 6q: Partial Trisomy 6q is a very rare genetic disorder where there are three copies of a portion of chromosome 6 in the cells of the body instead of the normal two. The range and severity of symptoms is variable.
• Diuril - Teratogenic Agent: There is evidence to indicate that exposure to Diuril ( a diuretic) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Double cortex syndrome: A rare brain development disorder which causes mental retardation and epilepsy. An extra layer of nerves develops under the brain cortex.
• Double outlet - right ventricle I: A very rare birth defect where the aorta and the pulmonary artery both exit from the right ventricle and thus blood is unable to be pumped to the lungs. However, a hole connects the two ventricles and ultimately allows some blood flow to the lungs. In the type I the hole is located just below the aorta and there is no narrowing of the pulmonary valve.
• Double outlet - right ventricle II: A very rare birth defect where the aorta and the pulmonary artery both exit from the right ventricle and thus blood is unable to be pumped to the lungs. However, a hole connects the two ventricles and ultimately allows some blood flow to the lungs. In the type II the hole is located in the infracristal area and there is no narrowing of the pulmonary valve.
• Down Syndrome: A chromosome syndrome causing physical effects and mental retardation.
• Down's Syndrome associated Alzheimer's disease: Early-onset Alzheimer's is more prevalent in Down's Syndrome sufferers than in the general population. Alzheimer's disease is a progressive disorder involving degeneration of the brain. The disease mainly affects brain functions involving thinking, memory, personality and behaviour.
• Down's syndrome associated Celiac Disease: Patients with Down's syndrome have a high degree of susceptibility to developing celiac disease. Up to 17% of Down's syndrome sufferers develop celiac disease but this rate varies amongst age groups and country of origin. Celiac disease is an autoimmune disorder characterized by intolerance to gluten by the small intestine. The type and severity of symptoms varies amongst people - some people have severe gastrointestinal symptoms from infancy whereas other have no symptoms other than fatigue or anemia during adulthood.
• Drowsiness: Excessive tiredness or sleepiness
• Dubowitz Syndrome: A rare genetic and developmental disorder characterized by infantile eczema, small stature, microcephaly and peculiar facial features.
• Dup (1) (q32-qter) and del (7)(q32-qter): A very rare chromosomal disorder where a portion of the long arm (q32-qter) of chromosome one is duplicated and the long arm of chromosome 7 (q32) is deleted. There have only been a couple of reported cases and symptoms may vary somewhat between patients.
• Dup (5)(q11-q22): A rare chromosomal disorder involving duplication of a certain section (q11-q22) of the long arm of chromosome 5 which results in various abnormalities.
• Dup (5)(q22-q23): A rare chromosomal disorder involving duplication of a certain section (q22-q23) of the long arm of chromosome 5 which results in various abnormalities.
• Dup (5)(q31-qter): A rare chromosomal disorder involving duplication of a certain section (q31-qter) of the long arm of chromosome 5 which results in various abnormalities.
• Dup (5)(q32-qter): A rare chromosomal disorder involving duplication of a certain section (q32-qter) of the long arm of chromosome 5 which results in various abnormalities.
• Dup (5)(q33-qter): A rare chromosomal disorder involving duplication of a certain section (q33-qter) of the long arm of chromosome 5 which results in various abnormalities.
• Dup(1) (p31.4-p22.1): A very rare chromosomal disorder (single reported case) where a portion of the short arm (p31.4-p22.1) of chromosome one is duplicated. The type and severity of symptoms is variable.
• Dup(1) (p34.1-p31): A very rare chromosomal disorder where a portion of the short arm (p34.1-p31) of chromosome one is duplicated.
• Duplication 10q partial: A very rare genetic disorder characterized by the duplication of genetic material from the long arm (q) of chromosome 10 - the genetic material occurs three times in body cells instead of the normal two. The type and severity of symptoms may vary considerably depending on the exact location and size of the duplicated genetic material.
• Duplication 12p: A rare chromosomal disorder where there are three copies of the short arm (p) of chromosome 12 rather than the normal two resulting in various abnormalities. The type and severity of symptoms depend on the amount and location of genetic material deleted.
• Duplication 12q: A rare chromosomal disorder where there are three copies of the long arm (q) of chromosome 12 rather than the normal two resulting in various abnormalities. In most cases, death occurs during infancy. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is duplicated.
• Duplication 2p: A rare chromosomal disorder where a portion of the short arm (p) of chromosome 2 is duplicated so there is three copies of it rather than the normal two.
• Duplication 2q: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 2 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
• Duplication 5p: A rare chromosomal disorder where there are three copies of all or part of the short arm (p) of chromosome 5 rather than the normal two. The type and severity of symptoms is determined by the location and size of the genetic material duplicated.
• Duplication 5q: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 5 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
• Duplication 6p: A very rare chromosomal disorder where a part of the short arm (p) of chromosome 6 is duplicated resulting in various abnormalities depending on the location and length of missing genetic material.
• Duplication 6q: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 6 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
• Duplication 6q, partial: Partial Trisomy 6q is a very rare genetic disorder where there are three copies of a portion of chromosome 6 in the cells of the body instead of the normal two. The range and severity of symptoms is variable.
• Duplication 7q: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 7 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
• Duplication 8p: A rare chromosomal disorder where the short arm (p) of chromosome 8 is duplicated resulting in three copies instead of two. The type and severity of symptoms depends on the location and length of genetic material duplicated.
• Duplication 8q: A rare chromosomal disorder where the long arm (q) of chromosome 8 is duplicated resulting in variable abnormalities depending on the location and length of genetic material deleted.
• Duplication 9p partial: A very rare genetic disorder where a portion of the genetic material on the short arm (p) of chromosome 9 is duplicated which results in various abnormalities. The type and severity of symptoms varies depending on the size and location of the genetic material involved.
• Dwarfism: An abnormally short individual
• Dwarfism - bluish sclerae: A form of dwarfism that also involves the presence of bluish sclera (due to abnormally thin sclera).
• Dwarfism - thin bones - multiple fractures: A rare form of dwarfism characterized by short stature as well as thin bones that are prone to fractures.
• Dyck Syndrome: A very rare condition observe in two brothers. It involves vision, hearing, muscle, sensory and adrenal system problems and an enlarged liver and spleen.
• Dyschondrosteosis - nephritis: A very rare syndrome characterized mainly by abnormal bone development and kidney disease.
• Dysgraphia: Impaired writing ability due to a pathological disorder.
• Dyslexia: Learning disorder from perception disorders rather than reduced brain function
• Dysmorphism - abnormal vocalization - mental retardation: A very rare syndrome characterized mainly by mental retardation, facial abnormalities and an abnormal voice.
• Dysthymia: Chronic depression usually associated with elderly people suffering stress from a variety of causes.
• Dystonia: A neurological disorder involving involuntary sustained muscle contractions.
• Dystrophic epidermolysis bullosa: A rare inherited skin blistering condition which can vary in severity depending on how it is inherited. Recessively inherited are more severe than dominantly inherited cases and can cause the loss of patches of skin and scarring which can impair limb function.
• Early-onset Alzheimer's: Early-onset Alzheimer's is a form of Alzheimer's disease that is linked to genetic defects or occurs in a familial pattern. It is not as common as the non-inherited form of Alzheimer's - occurs in up to 90% of Alzheimer sufferers. Alzheimer's disease is a progressive disorder involving degeneration of the brain. The disease mainly affects brain functions involving thinking, memory, personality and behaviour.
• Ecstacy - Teratogenic Agent: There is evidence to indicate that exposure to Ecstacy during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Ecstasy addiction: An uncontrollable desire to use ecstasy on a regular basis. Chronic ecstasy use can lead to dependency in as little as two weeks. Ecstasy is a synthetic psychoactive drug often used as a recreational drug. Street names for the drug includes: XTC, Adam, Clarity, Lover's Speed, Hug, Beans and Love Drug. Frequent use leads to an increased tolerance to the drug so higher and higher doses are required to achieve the desired euphoric feeling.
• Ectodermal dysplasia - arthrogryposis - diabetes mellitus: A rare syndrome characterized by diabetes, short stature and tooth, hair and nail abnormalities.
• Ectodermal dysplasia, Berlin type: A rare syndrome characterized mainly by the absence of many or all teeth, a lack of hair, mental retardation and skin abnormalities.
• Ectodermal dysplasia, anhidrotic with T-cell immunodeficiency, autosomal dominant: An inherited disorder characterized by dry, rough skin, sparse scalp hair, cone-shaped teeth and an immune system disorder.
• Ectodermal dysplasia, hypohidrotic, autosomal dominant: A very rare inherited disorder that affects the development of skin, hair, nails, teeth and sweat glands during the fetal stage.
• Ehlers-Danlos syndrome Type I: A rare genetic connective tissue disorder characterized by hyperextensible joints, hyperextensible skin and poor wound healing.
• Ehlers-Danlos syndrome, classic type: A rare genetic connective tissue disorder characterized by hypermobile joints, joint dislocations and skin hyperextensibility and fragility - a combination of ED types I and II.
• Enalapril - Teratogenic Agent: There is evidence to indicate that exposure to Enalapril (an ACE inhibitor) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Encephalo cranio cutaneous lipomatosis: A rare genetic disorder characterized by craniofacial lipomas, cerebral atrophy and patches of alopecia.
• Encephaloceles: Improper protrusions of parts of the meninges and brain.
• Eng Strom syndrome: A rare syndrome characterized by short stature and episodes of locked finger joints.
• Enteric Anendocrinosis: A congenital condition characterized by diarrhea and malabsorption resulting form a reduced number of enteroendocrine cells. Enteroendocrine cells are found mainly in the pancreas but also in the gastrointestinal tract and they produce various hormones needed for processes such as digestion.
• Epidermal nevus - vitamin D resistant rickets: A rare syndrome characterized mainly by the presence of birth marks on the skin, bone abnormalities and mental retardation.
• Epidermolysis bullosa, dermolytic: A rare genetic syndrome characterized by fragile skin which blisters easily due to defective skin collagen. The mucosal lining of the mouth and even intestines may be effected in severe cases.
• Epidermolysis bullosa, junctional: A rare inherited skin disease which is characterized by fragile skin which readily forms skin blisters and can result in fatal complications.
• Epilepsy, Pyridoxine-Dependent: A form of epilepsy which responds to pyridoxine hydrochloride administration and not to standard anticonvulsant medication.
• Epilepsy, X-linked - learning disabilities - behavior disorders: An inherited syndrome characterized by epilepsy, behavioral disorders and learning disability. Patients may suffer various combinations of the disorder. The onset of seizures can vary from childhood to adulthood.
• Epilepsy, pyridoxin-dependent: A form of epilepsy which responds to pyridoxine hydrochloride administration and not to standard anticonvulsant medication.
• Epoetin alfa - Teratogenic Agent: There is evidence to indicate that exposure to Epoetin alfa (used to treat some forms of anemia) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Epogen - Teratogenic Agent: There is evidence to indicate that exposure to Epogen (used to treat some forms of anemia) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Eposin - Teratogenic Agent: There is evidence to indicate that exposure to Eposin (a chemotherapy drug) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Erythroderma lethal congenital: A rare disorder which results in death within a year of birth and involves skin and growth problems.
• Erythromycin - Teratogenic Agent: There is evidence to indicate that exposure to Erythromycin (an antibiotic) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Esmolol - Teratogenic Agent: There is evidence to indicate that exposure to Esmolol (a heart drug) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Ethanol - Teratogenic Agent: There is evidence to indicate that exposure to Ethanol during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Etoposide - Teratogenic Agent: There is evidence to indicate that exposure to Etoposide (a chemotherapy drug) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Excessive dieting: Excessive limitation of food intake can lead to problems and effects such as dizziness, depression, intestinal problems, edema and impaired growth.
• Exostoses, multiple: A rare genetic disorder characterized mainly by limb deformities and other skeletal abnormalities caused primarily by a disorder of the bone growth plates.
• Eye defects - arachnodactyly - cardiopathy: A rare syndrome characterized mainly by eye defects, long, thin fingers and heart disease.
• FG Syndrome: A rare genetic disorder characterized by anal abnormalities, reduced muscle tone and a prominent forehead.
• FG syndrome 1: A rare inherited disorder characterized by anal abnormalities, reduced muscle tone and abnormal brain development. In type 1, the genetic defect is located on chromosome Xq12-q21.31.
• FG syndrome 2: A rare inherited disorder characterized by anal abnormalities, reduced muscle tone and abnormal brain development. In type 2, the genetic defect is located on chromosome Xq28.
• FG syndrome 3: A rare inherited disorder characterized by anal abnormalities, reduced muscle tone and abnormal brain development. In type 3, the genetic defect is located on chromosome Xp22.3.
• FG syndrome 4: A rare inherited disorder characterized by anal abnormalities, reduced muscle tone and abnormal brain development. In type 4, the genetic defect is located on chromosome Xp11.4-p11.3.
• FG syndrome 5: A rare inherited disorder characterized by anal abnormalities, reduced muscle tone and abnormal brain development. In type 5, the genetic defect is located on chromosome Xq22.3.
• Facial dysmorphism - intellectual deficit - short stature - hearing loss: A very rare inherited disorder characterized by retarded growth, mental retardation, bone abnormalities and distinctive facial features.
• Faciocardiomelic dysplasia, lethal: A very rare lethal syndrome characterized by facial, heart and skeletal abnormalities.
• Failure to thrive: Inadequate or interrupted physical growth.
• Familial Forms of Alzheimer's Disease: Alzheimer's disease is a progressive disorder involving degeneration of the brain. The disease mainly affects brain functions involving thinking, memory, personality and behaviour. Familial forms of the disease tend to run in families and are linked to mutations on various genes. Chromosome 1, 14 19 and 21 are the main chromosomes where mutations resulting in Alzheimer's are located..
• Familial band heterotopia: A rare inherited disorder where a part of the brain tissue is misplaced during development. More specifically, a layer of brain tissue is abnormally located in the white matter.
• Familial hypopituitarism: Impaired pituitary gland hormone-producing activity that tends to run in families. The failure of the pituitary gland in turn affects other hormone-producing glands which rely on the hormones from the pituitary gland for their activity. Symptoms are determined by the degree and type of hormone deficiency involved.
• Familial porencephaly: A very rare developmental abnormality that tends to run in families and is characterized by a localized accumulation of cerebrospinal fluid in the brain. The severity of symptoms is determined by the size and location of the brain abnormality.
• Fanconi anemia type C: A rare inherited blood disorder characterized by a lack of blood cells (red and white blood cells and blood platelets).
• Fanconi syndrome: Fanconi syndrome that occurs secondary to the accumulation of crystals of light-chain immunoglobulin molecules in the kidney tubules which affects their functioning.
• Fanconi-Albertini-Zellweger syndrome: A rare syndrome characterized mainly by congenital heart defect, brain abnormalities, unusual face and metabolic acidosis.
• Farouk-induced lead poisoning: Farouk is a folk remedy by Saudi Arabian people to treat teething. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
• Female reproductive toxicity: There is mounting evidence which indicates that exposure to certain agents may produce adverse reproductive or fetal developmental effects. The possible range of effects includes reduced fertility, low birth weight, childhood cancer, spontaneous abortion and birth defects. Agents which may be implicated in these adverse effects includes anticancer drugs, carbon disulfide, carbon monoxide, lead, pesticides, organic solvents and tobacco smoke.
• Fernhoff-Blackston-Oakley syndrome: A very rare syndrome characterized mainly by retarded fetal growth and jaw anomaly as well as various other abnormalities.
• Fetal Hydantoin Syndrome: A rare disorder caused by fetal exposure to phenytoin (anticonvulsant drug) and resulting in various abnormalities.
• Fetal alcohol syndrome: A condition which occurs in a new born fetus and is caused by the mother consuming excess alcohol during her pregnancy
• Fetal aminopterin syndrome: A rare disorder which produces multiple abnormalities and results from a failed abortion attempt using the drugs aminopterin and methotrexate.
• Fetal anticonvulsant syndrome: Maternal use of anticonvulsants may increase the risk of the fetus developing birth defects. There is insufficient evidence to definitely conclude that maternal use of anticonvulsants is harmful to the fetus.
• Fetal ricin syndrome: A condition that occurs in infants born to mothers who consumed castor oil seeds (Ricinus communis) as a form of contraception.
• Fetal thalidomide syndrome: The maternal use of thalidomide during pregnancy increases the risk of birth defects.
• Filippi Syndrome: A very rare disorder involving finger and toe abnormalities, a small head, characteristic face and physical and mental retardation. The number of digits involved and extent of webbing between digits is variable as are many of the other features.
• Finnish lethal neonatal metabolic syndrome: A very rare lethal metabolic disorder characterized by a deficiency of complex III which causes brain, kidney and liver problems and ultimately results in early death.
• Fitzsimmons-Guilbert syndrome: A very rare syndrome characterized mainly by paraplegia, short fingers and bone abnormalities. The paraplegia progresses slowly.
• Flunitrazepam - Teratogenic Agent: There is evidence to indicate that exposure to Flunitrazepam during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Fluphenazine - Teratogenic Agent: There is evidence to indicate that exposure to Fluphenazine (an antipsychotic drug) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Flurbiprofen - Teratogenic Agent: There is evidence to indicate that exposure to Flurbiprofen during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Fluvoxamine maleate - Teratogenic Agent: There is evidence to indicate that exposure to Fluvoxamine maleate during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Folic Acid Deficiency - Teratogenic Agent: There is evidence to indicate that a deficiency of Folic Acid during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Follicular hamartoma - alopecia - cystic fibrosis: A rare syndrome characterized by small benign growths that develop in hair follicles, alopecia and cystic fibrosis.
• Fontaine-Farriaux-Blanckaert syndrome: A rare syndrome characterized by premature fusion of skull bones as well as various other abnormalities.
• Food allergies: a food allergy is an adverse immune response to a food protein
• Forbes disease: A rare inherited glycogen storage disease caused by a deficiency of the enzyme amylo-1,6-glucosidase resulting in a build up of glycogen in the liver and muscles.
• Formaldehyde - Teratogenic Agent: There is strong evidence to indicate that the use of Formaldehyde during pregnancy may cause a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Fosinopril - Teratogenic Agent: There is evidence to indicate that exposure to Fosinopril during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Francois dyscephalic syndrome: A rare genetic disorder characterized by very small stature, microphthalmia, small pinched nose and hypotrichosis.
• Frank-Ter Haar syndrome: A rare genetic bone disorder characterized by skeletal abnormalities, enlarged corneas and characteristic facial abnormalities.
• Fraser-Jequier-Chen syndrome: A very rare disorder characterized by a cleft epiglottis and larynx, extra fingers and toes and kidney, pancreatic and bone abnormalities. The internal organs are also located on the opposite side of the body to normal (situs inversus totalis).
• Froehlich syndrome: A rare condition where an endocrine abnormality (caused by such things as a pituitary tumor or damage to the hypothalamus) affects hormone levels which results in a variety of symptoms.
• Froelich's syndrome: A rare condition where an endocrine abnormality (caused by such things as a pituitary tumor or damage to the hypothalamus) affects hormone levels which results in a variety of symptoms.
• Frolich's syndrome: A rare condition where an endocrine abnormality (caused by such things as a pituitary tumor or damage to the hypothalamus) affects hormone levels which results in a variety of symptoms.
• Frontonasal dysplasia - phocomelic upper limbs: A very rare syndrome characterized mainly by short arms, facial anomalies and various other abnormalities.
• Frontotemporal dementia: A degenerative brain disease involving frontal and temporal brain lobes resulting in dementia. Degeneration of the frontal lobe causes behavioral and personality changes degeneration of the temporal lobe causes semantic dementia.
• Frontotemporal dementia, ubiquitin-positive: A rare inherited neurodegenerative disorder characterized primarily by progressive social, behavioral and language deterioration due to changes in the frontotemporal portion of the brain.
• Frölich's syndrome: A hypothalmus disorder that affects males causing them to be overweight, have no sexual development and impaired sleep and appetite.
• Fucosidosis type 1: A rare biochemical disorder involving deficiency of an enzyme (alpha-fucosidase) which results in accumulation of certain chemicals (glycosphingolipids) in the central nervous system and other body tissues. It is an infantile form of fucosidosis which starts early and rapidly progresses to early death.
• Fucosidosis type II: A form of the biochemical disorder called fucosidosis where an enzyme deficiency (alpha-fucosidase) results in the accumulation of certain chemicals (glycosphingolipids) in the central nervous system and other body tissues. Symptoms start later and progress slower than in type I and is distinguished by warty skin growths.
• Fukuyama type muscular dystrophy: A rare inherited muscle wasting disease occurring predominantly in Japan and characterized by mental retardation and muscle weakness from infancy.
• Functioning pancreatic endocrine tumor: Tumors that develop in the pancreas and cause excessive secretion of one or more pancreatic hormones such as insulin, somatostatin, glucagons, gastrin, ACTH (corticosteroids) and vasoactive intestinal peptidase.
• Fungal meningitis: Fungal meningitis is an infection that causes swelling and irritation of the tissue around the brain and spinal cord. It usually strikes people whose weakened immune systems can't fight off infection. The disease is not common. but it can be very serious.
• GAPO syndrome: A rare condition characterized by retarded growth, alopecia, otpic atrophy and failure of teeth to erupt.
• GM1 gangliosidosis: A rare biochemical disorder involving a deficiency of an enzyme (beta-galactosidase A) which results in the accumulation of harmful chemicals (GM1 gangliosides) in the central nervous system and other body tissues. Type 1 is a severe infantile form of the disorder and involves a greater degree of accumulation than type II or III.
• Galactosemia I: A rare inherited disorder where deficiency of a particular enzyme (galactose-1-phosphate uridyl transferase) prevents the metabolism of galactose which is a sugar component of milk. Ranges from milk intolerance in mild cases to death in severe untreated cases.
• Game-Friedman-Paradice syndrome: A rare condition characterized by retarded growth, hydrocephaly, underdeveloped lungs and various other anomalies. The condition was observed in four offspring from one family.
• Gangliosidosis generalized GM1, type 1: A rare biochemical disorder involving a deficiency of an enzyme (beta-galactosidase A) which results in the accumulation of harmful chemicals (GM1 gangliosides) in the central nervous system and other body tissues. Type 1 is a severe infantile form of the disorder and involves a greater degree of accumulation than type II or III.
• Gaucher disease - perinatal lethal form: A rare syndrome characterized by the association of abnormally tight skin and Gaucher disease which is a lipid storage disease. This is the most severe form of Gaucher disease.
• Generalized lipodystrophy with mental retardation, deafness, short stature and slender bones: A recessively inherited disorder characterized by short stature, mental retardation, deafness, slender bones and degeneration of the body's fat tissue.
• German syndrome: A rare disorder caused by fetal exposure to trimethadione (anticonvulsant drug) and resulting in various physical and developemental abnormalities.
• Geroderma osteodysplastica: A rare connective tissue disorder characterized mainly by elastic skin, a prematurely aged facial appearance and abnormal calcification of bones causing them to break easily.
• Gerodermia osteodysplastica: A rare connective tissue disorder characterized mainly by elastic skin, a prematurely aged facial appearance and abnormal calcification of bones causing them to break easily.
• Gerodermia osteodysplastica hereditaria: A rare connective tissue disorder characterized mainly by elastic skin, a prematurely aged facial appearance and abnormal calcification of bones causing them to break easily.
• Gerodermia osteodysplasticum: A rare connective tissue disorder characterized mainly by elastic skin, a prematurely aged facial appearance and abnormal calcification of bones causing them to break easily.
• Gerstmann's Syndrome: Brain defect causing various cognitive problems.
• Ghasard-induced lead poisoning: Ghasard is a lead-containing tetraoxide salt used mainly by Asian and Indian people as a tonic (usually for indigestion). This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
• Ghosal syndrome: A very rare syndrome characterized mainly by difficult to treat anemia and skeletal abnormalities.
• Glioma: A rare type of tumor that occurs from glial cells that make up the central nervous system. These tumors usually occur in the brain but can also occur in the spinal cord and other nerves such as the optic nerve. Symptoms depend on the size and location of the tumor.
• Global developmental delay - osteopenia - ectodermal defect: A rare syndrome characterized by developmental delay, osteopenia and skin anomalies.
• Gloomy syndrome: A rare genetic condition which is characterized by distinctive physical features and severe growth retardation that starts during the fetal stage. Intelligence is not affected.
• Glucose transport defect, blood-brain barrier: A rare metabolic disorder involving a deficiency of a molecule needed to transport glucose (GLUT1). The glucose is unable to be transported from the blood and into the brain and cerebrospinal fluid. Sugar transport to the brain is essential for normal development. The blood sugar level remains normal. Fasting exacerbates symptoms which can very in severity depending on the degree of deficiency.
• Glutamate decarboxylase deficiency: A rare disorder of amino acid metabolism characterized by a deficiency of the enzyme called glutamate decarboxylase which causes seizures that will only respond to pyridoxine (vitamin B6).
• Glycine encephalopathy, atypical mild form: A rare disorder of amino acid metabolism where glycine are unable to be metabolized properly due to defects in the glycine cleavage system. The atypical mild form tends to be quite mild and can be difficult to diagnose due to the nonspecific symptoms.
• Glycine synthase deficiency: A rare genetic disorder characterized by high blood glycine levels which is toxic to the body. The severity of the condition varies according to the degree of deficiency and age of onset. The classical neonatal form is generally quite severe, the atypical mild form which generally includes symptoms such as aggressiveness, behavioral problems and speech problems. The transient neonatal form involves high blood glycine levels at birth which then returns to normal within a couple of months - there was no neurological or developmental impairment.
• Glycogen branching deficiency: A rare metabolic disorder where an enzyme deficiency (glycogen branching enzyme) results in a harmful buildup of glycogen byproducts in the liver, muscle and even the heart in some cases. The severity of symptoms is variable depending on the degree of enzyme deficiency and how strictly treatment measures are adhered to.
• Glycogen debranching deficiency: A rare metabolic disorder where an enzyme deficiency (amylo-1,6-glucosidase) results in a harmful buildup of glycogen byproducts in the liver, muscle and even the heart in some cases. The severity of symptoms is variable depending on the degree of enzyme deficiency and how strictly treatment measures are adhered to.
• Glycogen storage disease type 1C: A genetic metabolic disorder involving a deficiency of the enzyme glucose-6-phosphatase (due to a defect in the microsomal phosphate) which results in the accumulation of glycogen in various tissues. G6P is stored as glycogen until the body needs to convert it to a sugar for energy. The enzyme deficiency prevents the conversion and hence low blood sugar levels result.
• Glycogen storage disease type 1D: A genetic metabolic disorder involving a deficiency of the enzyme glucose-6-phosphatase (due to a defect in the microsomal glucose transporter) which results in the accumulation of glycogen in various tissues. G6P is stored as glycogen until the body needs to convert it to a sugar for energy. The enzyme deficiency prevents the conversion and hence low blood sugar levels result.
• Glycogen storage disease type 6: A rare, generally mild form of inherited glycogen storage disease where a deficiency of phosphorylase b kinase leads to hypoglycemia and accumulation of glycogen in the liver.
• Glycogen storage disease type 6A, due to phosphorylase kinase deficiency: A rare, generally mild form of inherited glycogen storage disease where a deficiency of phosphorylase kinase leads to hypoglycemia and accumulation of glycogen in the liver. Phosphorylase kinase deficiency can cause glycogen storage disease type VIa and/or IX.
• Gold Sodium Thiomalate - Teratogenic Agent: There is evidence to indicate that exposure to Gold Sodium Thiomalate during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Gonadal dysgenesis XY type associated anomalies: A very rare syndrome characterized mainly by
• Gonadotropin-dependent precocious puberty: A rare disorder affecting females where premature puberty occurs due to premature release of gonadotropin hormones.
• Goossens-Devriendt syndrome: A very rare syndrome characterized mainly by a brain defect, congenital heart disease and extra fingers.
• Gordan-Overstreet syndrome: A rare variant of Turner syndrome.
• Gracile bone dysplasia: An inherited disorder characterized by brittle bones and thin, slender long bones and ribs as well as other abnormalities.
• Grange syndrome: A rare syndrome characterized by the abnormal narrowing of various arteries, high blood pressure, heart defects, fragile bones and short, webbed digits. The congenital heart defects are not present in all cases.
• Greig Cephalopolysyndactyly Syndrome: A rare genetic disorder characterized by premature closing of skull bones and craniofacial abnormalities, finger and toe abnormalities.
• Greta-induced lead poisoning: Greta is a lead-containing tetraoxide salt used mainly by Mexican people to treat digestive or stomach problems including indigestion and diarrhea. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
• Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate: A rare syndrome characterized mainly by mental retardation, retarded growth, small head, cleft palate and facial abnormalities.
• Growth delay - mental retardation - mandibulofacial dysostosis - microcephaly - cleft palate: A rare syndrome characterized by delayed growth, mental retardation, small head, cleft palate and facial and jaw anomaly.
• Growth delay due to insulin-like growth factor I deficiency: A rare disorder where the deficiency of a growth factor (IGF-1) causes growth delay, deafness and mental retardation.
• Growth delay due to insulin-like growth factor I resistance: A rare genetic disorder where there is sufficient growth hormone produced but the body is insensitive or unable to respond to it.
• Growth plate injuries: Injury to the growing ends of young bones.
• Growth retardation mental retardation phalangeal hypoplasia: A rare syndrome characterized mainly by retarded growth, mental retardation and underdeveloped digits.
• Growth symptoms: Symptoms related to poor or excessive growth.
• HADH deficiency: A rare inherited form of biochemical disorder characterized by the deficiency of a particular enzyme (3-Hydroxyacyl-CoA Dehydrogenase). The enzyme deficiency only affects certain body tissues, in particular the skeletal muscles. The lack of enzyme activity prevents some fats being converted into energy. Symptoms tend to be exacerbated during fasting as during fasting, the body tries to rely more heavily on fats for energy. Fatty acids that are not completely metabolized due to the enzyme deficiency may build up in various organs and cause serious complications.
• HEM dysplasia: A rare disorder characterized by hydrops, dwarfism and abnormal bone calcification. The condition generally results in fetal death.
• HIV/AIDS: HIV is a sexually transmitted virus and AIDS is the progressive immune failure that HIV causes.
• Haas-Robinson syndrome: A rare, recessively inherited disorder involving defective copper metabolism within the body which causes symptoms such as mental retardation, seizures and poor muscle tone.
• Hai Ge Fen-induced lead poisoning: Hai Ge Fen is clamshell powder used mainly by Chinese people to make traditional Chinese herbal medicines. This product has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
• Hall-Riggs mental retardation syndrome: A rare inherited disorder characterized by mental retardation, distinctive facial features and various bone abnormalities.
• Hanhart syndrome type I: A rare genetic disorder characterized by retarded growth, impaired libido, distinctive facial features, delayed puberty and excess fatty deposits in breast and abdominal area.
• Hanhart syndrome type II: A rare genetic disorder characterized by retarded growth, distinctive facial features, delayed puberty, excess fatty deposits in breast and abdominal area, small jaw , small tongue, hand and foot deformities and missing teeth.
• Havlikova syndrome: A rare familial disorder involving liver, spleen and pancreatic problems.
• Heart symptoms: Symptoms affecting the heart
• Heiner syndrome: A disease caused by the precipitation in the blood of antibodies to cow's milk.
• Henna-induced lead poisoning: Henna is used mainly by Middle Eastern people as a hair and skin dye. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
• Heparin - Teratogenic Agent: There is evidence to indicate that exposure to Heparin (an anticoagulant drug) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Hereditary methemoglobinemia, recessive, type II: A rare inherited blood disorder where the hemoglobin (the oxygen-carrying part of red blood cells) can't bind with oxygen which impairs the oxygen supply to parts of the body, especially during exertion when more oxygen is needed by the body. The type II form of Gibson syndrome is more severe than type I and is characterized by cyanosis as well as neurological problems, mental deficiency and various other anomalies. Type I has enzyme deficiency (cytochrome B5 reductase) only in the red blood cells whereas in Type II the enzyme deficiency occurs in other body cells as well as red blood cells.
• Hereditary nodular heterotopia: A rare inherited disorder where a part of the brain tissue is misplaced during development. More specifically, nodules of brain tissue is in various parts of the brain.
• Hereditary pyropoikilocytosis: A rare inherited condition where abnormal red blood cells are very sensitive to heat resulting in their destruction and hence, hemolytic anemia.
• Hereditary sensory and autonomic neuropathy 3: A very rare inherited disorder affecting the peripheral and autonomic nervous system and characterized by reduced tear production, excessive sweating, poor body temperature control, blood pressure problems, impaired sensation and poor muscle control.
• Heroin - Teratogenic Agent: There is evidence to indicate that exposure to Heroin during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Heroin dependence: The physical and psychological dependence to the recreational drug heroin
• Herpes virus antenatal infection: Transmission of the herpes virus from the mother to the baby during the fetal stage.
• Herpes, Neonatal: Neonatal herpes is the infection of a newborn with the herpes virus within the first six weeks of life. The virus may be transmitted from the mother to the baby while it is still in the uterus or during delivery. The risk of transmitting the virus is highest if genital herpes is contracted during the late stages of the pregnancy. A mother with long standing or recurring herpes infection usually has sufficient antibodies to the virus to prevent the infant becoming infected. Neonatal herpes can also be contracted when an infant comes into contact with an infected person e.g. being kissed by and adult with cold sores. A cesarean birth may be advised for mothers who have active genital lesions.
• Herpes, Neonatal - Central Nervous System Infection: Central nervous system herpes infection in neonates is a herpes infection of the central nervous system (brain, spinal cord) that develops in infants within the first six weeks of life. The virus may be transmitted from the mother to the baby while it is still in the uterus or during delivery. The risk of transmitting the virus is highest if genital herpes is contracted during the late stages of the pregnancy. A mother with long standing or recurring herpes infection usually has sufficient antibodies to the virus to prevent the infant becoming infected. Neonatal herpes can also be contracted when an infant comes into contact with an infected person e.g. being kissed by and adult with cold sores. A cesarean birth may be advised for mothers who have active genital lesions. Central nervous system infection will occur in nearly three quarters of infants with a herpes infection.
• Herpes, Neonatal - Disseminated: Disseminated neonatal herpes is a widespread infection of a newborn with the herpes virus within the first six weeks of life. The virus may be transmitted from the mother to the baby while it is still in the uterus or during delivery. The risk of transmitting the virus is highest if genital herpes is contracted during the late stages of the pregnancy. A mother with long standing or recurring herpes infection usually has sufficient antibodies to the virus to prevent the infant becoming infected. Neonatal herpes can also be contracted when an infant comes into contact with an infected person e.g. being kissed by and adult with cold sores. A cesarean birth may be advised for mothers who have active genital lesions. Brain infection will occur in over half of infants with the disseminated form.
• Herpetic embryopathy: Transmission of the herpes virus from the mother to the baby during the fetal stage.
• Herrmann-Opitz craniosynostosi: A very rare syndrome characterized mainly by mental retardation, skeletal abnormalities and an unusual facial appearance.
• Hersh-Podruch-Weisskopk syndrome: A very rare syndrome characterized mainly by progressive retinal damage, mental retardation and deafness.
• Heterotopia, periventricular, autosomal recessive: A rare, recessively inherited developmental brain abnormality. Type 2 is caused by a defect on chromosome 20q13.13.
• Hirschsprung's disease: A rare condition where abnormalities in the bowel muscles prevent it from contracting normally and pushing the fecal matter through which results in obstruction and dilation of the bowel.
• Histidinuria, renal tubular defect: A very rare syndrome where a kidney defect causes high levels of histidine in the urine.
• Holoprosencephaly - ectrodactyly - cleft lip/palate: A very rare syndrome characterized mainly by a cleft hand, lip and/or palate and the failure of the brain to separate into two lobes.
• Holzgreve-Wagner-Rehder syndrome: A rare genetic disorder characterized by extra fingers, cleft palate, heart abnormalities, growth retardation and various other anomalies.
• Homologous wasting disease: A term used to describe the disease state resulting from a graft versus host reaction. Graft versus host reaction occurs when the immune system of a transplant patient attacks the transplanted tissue but in homologous wasting disease the immune cells in the transplanted tissue actually attacks the host tissues. The condition occurs most often after a bone marrow transplant.
• Houlston-Ironton-Temple syndrome: A very rare syndrome characterized mainly by
• Hoyeraal-Hreidarsson syndrome: A very rare syndrome characterized mainly by retarded growth, a small head, anemia, immunodeficiency and an underdeveloped brain (cerebellum).
• Human HOXA1 Syndromes: Human HOXA1 syndromes are very rare conditions caused by genetic defects involving the HOXA1 gene. The severity of the condition is highly variable depending on the extent of the defect and inheritance pattern. The most severe form is Bosley-Salih-Alorainy syndrome which involves a homozygous mutation. Other manifestations of the genetic defect are Athabaskan Brainstem Dysgenesis syndrome and Navajo Brainstem syndrome. The gene is involved in the development of the cardiovascular system, inner ear and the hindbrain so defects tend to involve mainly these parts of the body.
• Hutchinson Gilford Syndrome: A rare genetic disorder characterized by alopecia and senile-like appearance.
• Hydantoin - Teratogenic Agent: There is strong evidence to indicate that the use of Hydantoin during pregnancy may cause a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Hydranencephaly: A very rare condition where fluid replaces a portion of the brain.
• Hydrocephalus: A condition which is characterized by marked dilatation of the cerebral ventricles
• Hydrocephalus - growth delay - skeletal anomalies: A very rare syndrome characterized mainly by retarded growth, buildup of fluid (cerebrospinal fluid) inside the skull and various skeletal anomalies.
• Hydrocephalus - growth retardation - skeletal anomalies: A very rare syndrome characterized mainly by retarded growth, buildup of fluid (cerebrospinal fluid) inside the skull and various skeletal anomalies.
• Hydrochlorothiazide - Teratogenic Agent: There is evidence to indicate that exposure to Hydrochlorothiazide during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Hyper-IgE Syndrome: A condition characterized by an excess of immunoglobulin E
• Hyperadrenalism: Excessive levels of adrenal hormones in the body. Symptoms depend on which hormone is involved and the degree of involvement. Adrenal hormones are aldosterone, corticosteroids, androgenic steroids, epinephrine and norepinephrine.
• Hyperinsulinemic hypoglycemia, familial, 1: A disorder where too much insulin causes low blood sugar in infants. Prompt treatment is needed to avoid the brain being damaged by repeated periods of low blood sugar. The various types of familial hyperinsulinemic hypoglycemia are distinguished by their genetic origin. HHF1 is due to a mutation in the gene for SUR1 (surfonlyurea receptor 1) on chromosome 11p15.1.
• Hyperinsulinemic hypoglycemia, familial, 2: A disorder where too much insulin causes low blood sugar in infants. Prompt treatment is needed to avoid the brain being damaged by repeated periods of low blood sugar. The various types of familial hyperinsulinemic hypoglycemia are distinguished by their genetic origin. HHF2 is due to a mutation in the gene for Kir6.2 on chromosome 11p15.1.
• Hyperinsulinemic hypoglycemia, familial, 3: A disorder where too much insulin causes low blood sugar in infants. Prompt treatment is needed to avoid the brain being damaged by repeated periods of low blood sugar. The various types of familial hyperinsulinemic hypoglycemia are distinguished by their genetic origin. HHF3 is due to a mutation in the gene for glucokinase on chromosome 7p15-p13.
• Hyperinsulinemic hypoglycemia, familial, 4: A disorder where too much insulin causes low blood sugar in infants. Prompt treatment is needed to avoid the brain being damaged by repeated periods of low blood sugar. The various types of familial hyperinsulinemic hypoglycemia are distinguished by their genetic origin. HHF4 is due to a mutation in the gene for 3-hydroxyacyl-CoA dehydrogenase on chromosome 4q22-q26.
• Hyperinsulinemic hypoglycemia, familial, 5: A disorder where too much insulin causes low blood sugar in infants. Prompt treatment is needed to avoid the brain being damaged by repeated periods of low blood sugar. The various types of familial hyperinsulinemic hypoglycemia are distinguished by their genetic origin. HHF5 is due to a mutation in the insulin receptor gene on chromosome 19p13.2.
• Hyperinsulinemic hypoglycemia, familial, 6: A disorder where too much insulin causes low blood sugar in infants. Prompt treatment is needed to avoid the brain being damaged by repeated periods of low blood sugar. The various types of familial hyperinsulinemic hypoglycemia are distinguished by their genetic origin. HHF6 is due to a mutation in the GLUD1 gene on chromosome 10q23.3.
• Hyperlysinemia, persistent: A rare genetic disorder where the body lacks enzymes (lysine ketoglutarate reductase and saccharopine dehydrogenase) to metabolize lysine which then causes a harmful builds up of lysine in the blood and urine and saccharopins in the urine. Some patients are asymptomatic while others have severe symptoms.
• Hyperopia: Inability to focus on close objects.
• Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome: A very rare inherited metabolic disorder where ammonia builds up in the body due to a defect in the transport of ornithine which prevents ammonia being converted to urea and being excreted through the urine. The severity of the condition is variable.
• Hyperreninemic Hypoaldosteronism, Familial 2: A very rare genetic disorder where deficiency of a particularly chemical results in a deficiency of aldosterone. The condition can be severe enough to cause infant death unless the patient is diagnosed and treated.
• Hypertelorism - esophageal abnormalities - hypospadias: A rare genetic disorder characterized by defects along the midline of the body. The type and severity of symptoms can vary considerably. There are two subtypes of the disorder: one is inherited in a X-linked manner and the other is inherited in an autosomal dominant manner. Females with the X-linked form of the condition tend to have few symptoms and often only have wide set eyes.
• Hypertelorism with esophageal abnormality and hypospadias: A congenital disorder characterized by distinctive facial features, genital abnormalities, esophageal defect and difficulty swallowing. Males are more severely affected than females.
• Hypertension - Teratogenic Agent: There is strong evidence to indicate that the development of Hypertension during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the stage of pregnancy that the exposure occurred at.
• Hyperthermia induced defects: A rare disorder where hypothermia during pregnancy results in infant abnormalities involving growth, development and brain dysfunction.
• Hyperthyroidism - Teratogenic Agent: There is strong evidence to indicate that the development of hyperthyroidism during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the stage of pregnancy that the exposure occurred at.
• Hypertryptophanemia: A rare genetic metabolic disorder characterized by high levels of tryptophan in the blood.
• Hypoaldosteronism, familial: A very rare genetic disorder where deficiency of a particularly chemical (aldosterone synthase) results in a deficiency of aldosterone. The condition can be severe enough to cause infant death unless the patient is diagnosed and treated.
• Hypomyelination - congenital cataract: A rare syndrome characterized by the association of congenital cataract with progressive neurological impairment due to progressive demyelination.
• Hypomyelination and congenital cataract: An inherited disorder characterized by congenital cataract and progressive neurological impairment due to reduced myelination of nerves.
• Hypoparathyroidism - short stature - mental retardation: A very rare syndrome characterized mainly by low parathyroid hormone level, short stature and mental retardation.
• Hypophosphatemic rickets: A rare genetic type of rickets involving defective phosphate transport and vitamin D metabolism in the kidneys. Poor calcium absorption from the intestines leads to bone softening.
• Hypopituitarism: A condition characterized by diminished hormonal section by the pituitary gland
• Hypopituitarism - micropenis - cleft lip palate: A very rare syndrome characterized mainly by low pituitary hormone level, small penis and a cleft lip and palate.
• Hypopituitary dwarfism: Short stature caused by low pituitary hormone levels which reduced growth hormone levels. Low pituitary hormone levels may be caused by genetic factors or acquired through brain infections, trauma or certain diseases.
• Hypospadias - hypertelorism: A congenital disorder characterized by distinctive facial features, genital abnormalities, esophageal defect and difficulty swallowing. Males are more severely affected than females.
• Hypothyroidism - Teratogenic Agent: There is strong evidence to indicate that the development of hypothyroidism during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the stage of pregnancy that the exposure occurred at.
• Hypothyroidism due to iodide transport defect: Low thyroid hormone levels in infants due to abnormal iodide transport in the body caused by a genetic defect. The severity of the condition varies depending on the extent of the defect and the length of time taken to diagnose the condition. Symptoms tend to become worse, the longer the condition is undiagnosed.
• I cell disease: A rare inherited biochemical disorder characterized by the harmful accumulation of chemicals (glycoproteins and glycoplipids) due to the deficiency of an enzyme (UDP-N-acetylglucosamine-I-phosphotransferase).
• IBIDS syndrome: A rare inherited skin disorder characterized by red, dry, scaly skin (I - ichthyosis), brittle hair (B), impaired physical and mental development (I), decreased fertility (D) and short stature (S). It is the same as PIBIDS syndrome but doesn't involve photosensitivity.
• ICF syndrome: A very rare, recessively inherited syndrome characterized mainly by a weak immune system and facial anomalies.
• IMAGe syndrome: A rare syndrome characterized by retarded fetal growth, abnormal bone development, underdeveloped adrenal glands and genital abnormalities.
• Imaizumi Kuroki syndrome: A very rare syndrome characterized mainly by premature skull fusion and forearm abnormalities.
• Inborn amino acid metabolism disorder: A group of inherited disorders where the body is not able to metabolize amino acids consumed in the diet. Amino acids are a part of carbohydrates, fats and proteins and are metabolized in order to provide energy or to make other needed compounds. There are many steps involved in metabolism and the severity can be greatly variable depending on the exact nature of the disorder.
• Inborn urea cycle disorder: A genetic disorder involving a deficiency of one of the enzymes needed in the urea cycle. The urea cycle is the process of removing ammonia from blood stream by converting it to urea and excreting it via urine. A build-up of ammonia in the blood is toxic to the body and can cause serious brain damage. The progressively severe symptoms usually become obvious within the first few weeks of birth. Nevertheless, mild or partial enzyme deficiencies may cause little or no symptoms or symptoms that don't start until later in life.
• Incontinentia Pigmenti: A rare genetic skin pigmentation disorder characterized by eye, teeth, bone, nail and hair malformations as well as central nervous abnormalities and mental deficiency.
• Infant symptoms: Symptoms affecting babies and infants.
• Infantile Refsum Disease: Genetic disease affecting nerve and muscle control.
• Infantile dysphagia: Swallowing problems in infants.
• Infantile multisystem inflammatory disease: A rare autoinflammatory disease characterized by fever, rash, arthritic changes, eye problems and chronic meningitis.
• Infantile sialic acid storage disorder: A rare inherited biochemical disorder characterized by the accumulation of sialic acid in the tissues and excretion of sialic acid in the urine. The disorder results in death within the first few years of life - usually in infancy.
• Infex - Teratogenic Agent: There is evidence to indicate that exposure to Infex (an antibiotic) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Interferon Alpha - Teratogenic Agent: There is evidence to indicate that exposure to Interferon Alpha during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Interferon Beta - Teratogenic Agent: There is evidence to indicate that exposure to Interferon Beta during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Intermediate cystinosis: Cystinosis is a condition where excess amino acid cystine builds up to harmful levels in the body. The intermediate form of cystinosis starts later than the nephropathic form but the symptoms are the same.
• Intracranial arachnoid cysts: A rare disorder involving a fluid-filled cysts on the arachnoid membrane which is one of the thin layers of tissue that form a membrane which covers the brain. The type and severity of symptoms is determined by the size and location of the cyst.
• Intrauterine growth retardation - metaphyseal dysplasia - adrenal hypoplasia congenita - genital anomalies: A rare syndrome characterized by retarded fetal growth, abnormal bone development, underdeveloped adrenal glands and genital abnormalities.
• Intrauterine infections: Infection of the fetus while still inside the womb. The type and severity of symptoms is determined by the type of infection and at what stage of pregnancy it occurs. Some cases are mild enough to be asymptomatic and others are severe enough to cause a miscarriage.
• Intrinsic factor, congenital deficiency of: A very rare disorder where a deficiency of a protein called intrinsic factor prevents vitamin B12 from being absorbed from the stomach. Thus, vitamin B12 deficiency occurs which leads to anemia.
• Iodine - Teratogenic Agent: There is evidence to indicate that exposure to Iodine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Ischiadic hypoplasia - renal dysfunction - immunodeficiency: A rare disorder characterized by abnormal kidney function, immunodeficiency and an underdeveloped
• Isobutyric aciduria: An extremely rare metabolic disorder where the body is unable to metabolize certain proteins properly. More specifically, an insufficient level of the enzyme (isobutyryl-coenzyme A dehydrogenase) needed to metabolize the amino acid valine. The onset and severity of symptoms is variable.
• Isobutyryl-coenzyme A dehydrogenase deficiency: An extremely rare genetic condition where the body is unable to metabolize certain proteins properly. More specifically, an insufficient level of the enzyme (isobutyryl-coenzyme A dehydrogenase) needed to metabolize the amino acid valine.
• Isotretinoin embryopathy like syndrome: A very rare syndrome which causes the same abnormalities and deformities that occur in fetal exposure to maternal use of isotretinoin.
• Ivemark Syndrome: A rare progressive disorder characterized by absence or abnormal development of the spleen and malformations of the heart vessels.
• Ives-Houston syndrome: A rare inherited syndrome characterized by retarded fetal growth, small head, malformed limbs and death before or soon after birth.
• Jacobs syndrome: A very rare syndrome characterized mainly by heart inflammation (pericardium), joint disease and permanent finger flexion. The number of joints affected is variable.
• Jacobsen syndrome: A very rare chromosomal disorder involving the absence of a portion of chromosome 11q. The range and severity of symptoms is determined by the size of the portion that is deleted.
• Jin Bu Huan-induced lead poisoning: Jin Bu Huan is a folk remedy used mainly by Chinese people to treat pain. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
• Juberg-Marsidi syndrome: A very rare inherited disorder characterized by severe mental retardation, delayed developmental milestones, muscle problems and growth retardation. The range and severity of symptoms is variable.
• Jumping Frenchmen of Maine: A rare condition where the startle reflex is greatly exaggerated. The startle reflex in this order is characterized by jumping, raising the arms, yelling, hitting, obeying sudden commands and repeating sentences.
• Juvenile Paget disease: A rare genetic bone disorder involving abnormal loss of bone mineralization and remineralization, broadened bone shafts and high levels of alkaline phosphatase in the blood. Some juvenile cases are relatively mild.
• Juvenile Retinoschisis: An inherited eye condition where degenerative changes in the eye causes the retina to split. The severity and age of onset of symptoms can vary.
• Juvenile nephronophthisis: A rare inherited kidney disorder characterized by formation of cysts inside the kidney, kidney fibrosis and tubular atrophy which leads to progressive kidney failure.
• Juvenile osteoporosis: Osteoporosis (progressive bone loss) that occurs in children. Osteoporosis in children can be caused by certain medical conditions (e.g. diabetes, malabsorption syndromes, kidney disease, hyperthyroidism), certain medications (e.g. corticosteroids, anticonvulsants), prolonged immobility or sometimes for no detectable reason (idiopathic).
• Juvenile pilocytic astrocytoma: A type of brain tumor that occurs in children and young adults. The tumor is derived from a type of cell called an astrocyte and it can occur in various parts of the brain as well as the optic pathways and the spinal cord. Malignancy is rare. Symptoms may vary depending on the size and location of the tumor.
• KBG Syndrome: A very rare genetic disorder involving short stature, mental retardation, abnormal development of various bones.
• Kabuki syndrome: A rare genetic disorder characterized by distinctive facial features.
• Kalam-Hafeez syndrome: A rare disorder characterized by low parathyroid levels in infants, retarded growth, mental retardation, dysmorphic features and seizures.
• Kallmann Syndrome: A rare inherited condition characterized by hypogonadism, eunuchoidism and impaired or absent sense of smell. The condition occurs as a result of failure of a part of the hypothalamus which results in hormonal imbalance.
• Kallmann syndrome 2: A rare inherited condition characterized by hypogonadism and impaired or absent sense of smell. The condition occurs as a result of failure of a part of the hypothalamus which results in hormonal imbalance. Type 2 is caused by a genetic defect located at chromosome 8p11.2-p11.1.
• Kallmann syndrome, type 1, X-linked: A rare inherited condition characterized by hypogonadism and impaired or absent sense of smell. The condition occurs as a result of failure of a part of the hypothalamus which results in hormonal imbalance. Type 1 is caused by a genetic defect located at chromosome Xp22.3.
• Kallmann syndrome, type 3, recessive: A rare inherited condition characterized by hypogonadism and impaired or absent sense of smell. The condition occurs as a result of failure of a part of the hypothalamus which results in hormonal imbalance. Type 3 is recessively inherited and the genetic defect is located at chromosome 20p13.
• Kallmann syndrome, type 4: A rare inherited condition characterized by hypogonadism and impaired or absent sense of smell. The condition occurs as a result of failure of a part of the hypothalamus which results in hormonal imbalance. Type 4 is caused by a genetic defect located at chromosome 3p21.1.
• Kandu-induced lead poisoning: Kandu (red powder) is a folk remedy used mainly by Asian and Indian people to treat intestinal problems. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
• Kaufman oculocerebrofacial syndrome: A rare syndrome characterized by a small head, narrow face, eye anomalies, severe mental retardation and long thin hands and feet. The disorder is recessively inherited.
• Keratosis follicularis - dwarfism - cerebral atrophy: A very rare syndrome characterized mainly by dwarfism, brain degeneration and a hair follicle disorder.
• Keratosis palmoplantaris - corneal dystrophy: A rare condition where a deficiency of a liver enzyme (tyrosinase aminotransferase) causes tyrosine levels in the blood to increase and result in eye problems, mental retardation and horny skin lesions which develop on pressure points on the hands and feet.
• King-Denborough syndrome: A rare birth disorder characterized by musculoskeletal abnormalities and nerve muscle problems.
• Klaricid - Teratogenic Agent: There is evidence to indicate that exposure to Klaricid (an antibiotic) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Klinefelter syndrome: A genetic condition where males have at least one extra X chromosome or extra copies of both the X and Y chromosomes in each cell. Normally male cells contain one X and one Y chromosome in each cell. The condition is not inherited but is a result of problems during cell division. Klinefelter syndrome variants is a more severe form of the condition as it involves more than one extra X or X and Y chromosome in each cell.
• Klonopin - Teratogenic Agent: There is evidence to indicate that exposure to Klonopin during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Kniest dysplasia: A rare genetic bone growth disorder characterized by dwarfism, enlarged joints and facial deformities.
• Kohl-induced lead poisoning: Kohl is a folk remedy used mainly by various ethnic groups (e.g. Africans, Asians, Indians and Pakistanis) to treat skin infections and to manage the umbilical stump. It is also used as a cosmetic in Arab communities. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
• Kowarski syndrome: A condition resulting from the presence of ineffective growth hormone.
• Krabbe leukodystrophy: A rare inherited biochemical disorder involving the deficiency of an enzyme called galactocerebrosidase. It is a leukodystrophy which refers to a group of genetic disorders that affect the growth of the protective coating around the brain nerves.
• Krabbé Disease: Brain myelin disorder with various symptoms.
• Krause-Kivlin syndrome: A rare genetic disorder characterized by short limb dwarfism, mental retardation and Peters anomaly.
• Kushta-induced lead poisoning: Kushta is a folk remedy used mainly by Indian and Pakistani people as an aphrodisiac and to treat diseases involving organs such as the liver, brain, heart and stomach. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
• Kuster-Majewski-Hammerstein syndrome: A very rare disorder characterized mainly by alopecia, retarded growth and eye problems. The loss of scalp hair is repetitive and the eye problem involves ring-shaped degeneration of the retinal pigmentary layer.
• Kwashiorkor: A malnutrition state that is produced by severe protein deficiency
• L-3-alpha-hydroxyacyl-CoA dehydrogenase, short chain, deficiency: A rare inherited form of biochemical disorder characterized by the deficiency of a particular enzyme (3-Hydroxyacyl-CoA Dehydrogenase). The enzyme deficiency only affects certain body tissues, in particular the skeletal muscles. The lack of enzyme activity prevents some fats being converted into energy. Symptoms tend to be exacerbated during fasting as during fasting, the body tries to rely more heavily on fats for energy. Fatty acids that are not completely metabolized due to the enzyme deficiency may build up in various organs and cause serious complications.
• LADHSC deficiency: A rare inherited form of biochemical disorder characterized by the deficiency of a particular enzyme (3-Hydroxyacyl-CoA Dehydrogenase). The enzyme deficiency only affects certain body tissues, in particular the skeletal muscles. The lack of enzyme activity prevents some fats being converted into energy. Symptoms tend to be exacerbated during fasting as during fasting, the body tries to rely more heavily on fats for energy. Fatty acids that are not completely metabolized due to the enzyme deficiency may build up in various organs and cause serious complications.
• LEOPARD Syndrome: A rare genetic disorder characterized by multiple lentigines, pulmonic stenosis, widely spaced eyes and deafness.
• Labetolol - Teratogenic Agent: There is evidence to indicate that exposure to Labetolol during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Lactic Acidosis, Fatal Infantile: The excessive accumulation of lactic acid in the blood which leads to metabolic acidosis.
• Lamotrigine - Teratogenic Agent: There is evidence to indicate that exposure to Lamotrigine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Language problems: Symptoms affecting language processing.
• Larsen-like osseous dysplasia - dwarfism: A very rare syndrome characterized mainly by bone abnormalities, joint dislocations, unusual facial appearance and dwarfism.
• Late-onset Alzheimer's: Late-onset Alzheimer's is a form of Alzheimer's disease that doesn't appear to be linked to any genetic defects or familial pattern. It is by far the most common form of Alzheimer's - occurs in up to 90% of Alzheimer sufferers. Alzheimer's disease is a progressive disorder involving degeneration of the brain. The disease mainly affects brain functions involving thinking, memory, personality and behaviour.
• Lateral meningocele syndrome: A rare syndrome characterized mainly by lateral meningoceles (openings in the spinal cord on the inside of the spine) as well as craniofacial anomalies. The syndrome is believed to involve the abnormal development of the spinal cord, cerebellum and cerebral cortex.
• Lead poisoning: A type of heavy metal poisoning caused by excessive exposure to lead.
• Lead poisoning - African Folk Remedies - Kohl: Kohl is a folk remedy used mainly by African people to treat skin infections and to manage the umbilical stump. It is also used as a cosmetic in Arab communities. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
• Lead poisoning - African Folk Remedies - Surma: Surma is a black powder used as a cosmetic as well as a folk remedy by African people to treat teething. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
• Lead poisoning - Aisan Folk Remedies - Chuifong tokuwan: Chuifong tokuwan is a folk remedy used mainly by Asian people to arthritis and other pain. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
• Lead poisoning - Asian Folk Remedies - Bali goli: Bali goli (flat black bean) is a folk remedy used mainly by Asian people to treat intestinal problems. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
• Lead poisoning - Asian Folk Remedies - Deshi Dewa: Deshi Dewa is a folk remedy by Asian people as a fertility medicine. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
• Lead poisoning - Asian Folk Remedies - Ghasard: Ghasard is a lead-containing tetraoxide salt used mainly by Asian and Indian people as a tonic (usually for indigestion). This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
• Lead poisoning - Asian Folk Remedies - Kandu: Kandu (red powder) is a folk remedy used mainly by Asian people to treat intestinal problems. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
• Lead poisoning - Asian Folk Remedies - Kohl: Kohl is a folk remedy used mainly by Asian people to treat skin infections and to manage the umbilical stump. It is also used as a cosmetic in Arab communities. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
• Lead poisoning - Asian Folk Remedies - Pay-loo-ah: Pay-loo-ah is a folk remedy used mainly by Vietnamese people to treat fever and rash. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
• Lead poisoning - Asian Folk Remedies - Surma: Surma is a black powder used as a cosmetic as well as a folk remedy by Asian people to treat teething. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
• Lead poisoning - Chinese Folk Remedies - Ba Bow Sen: Ba Bow Sen is a folk remedy used mainly by Chinese people to treat childhood hyperactivity and to alleviate nightmares. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
• Lead poisoning - Chinese Folk Remedies - Cordyceps: Cordyceps is a folk remedy by Chinese people to treat high blood pressure, bleeding problems and diabetes. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
• Lead poisoning - Chinese Folk Remedies - Hai Ge Fen: Hai Ge Fen is clamshell powder used mainly by Chinese people to make traditional Chinese herbal medicines. This product has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
• Lead poisoning - Chinese Folk Remedies - Jin Bu Huan: Jin Bu Huan is a folk remedy used mainly by Chinese people to treat pain. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
• Lead poisoning - Chinese Folk Remedies - Po Ying Tan: Po Ying Tan is a folk remedy used mainly by Chinese people to treat minor childhood complaints. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
• Lead poisoning - Chinese Folk Remedies - Rueda: Rueda is a lead-containing folk remedy used mainly by Chinese people to treat infant colic or to calm young children. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
• Lead poisoning - Folk Remedies: A number of folk remedies have the potential to cause lead poisoning due to their relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. The high content of lead in some folk remedies can cause symptoms of lead poisoning which can result in serious illness and even death in severe cases.
• Lead poisoning - Hispanic Folk Remedies - Alarcon: Alarcon is a folk remedy used mainly by Hispanic people to treat digestive or stomach problems including indigestion and diarrhea. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
• Lead poisoning - Hispanic Folk Remedies - Azarcon: Azarcon is a lead-containing tetraoxide salt used mainly by Hispanic people to treat digestive or stomach problems including indigestion and diarrhea. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
• Lead poisoning - Hispanic Folk Remedies - Coral: Coral is a lead-containing tetraoxide salt used mainly by Hispanic people to treat digestive or stomach problems including indigestion and diarrhea. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
• Lead poisoning - Hispanic Folk Remedies - Greta: Greta is a lead-containing tetraoxide salt used mainly by Hispanic people to treat digestive or stomach problems including indigestion and diarrhea. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
• Lead poisoning - Hispanic Folk Remedies - Liga: Liga is a lead-containing tetraoxide salt used mainly by Hispanic people to treat digestive or stomach problems including indigestion and diarrhea. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
• Lead poisoning - Hispanic Folk Remedies - Luiga: Luiga is a folk remedy used mainly by Hispanic people to treat digestive or stomach problems including indigestion and diarrhea. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
• Lead poisoning - Hispanic Folk Remedies - Maria Luisa: Maria Luisa is a lead-containing tetraoxide salt used mainly by Hispanic people to treat digestive or stomach problems including indigestion and diarrhea. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
• Lead poisoning - Indian Folk Remedies - Deshi Dewa: Deshi Dewa is a folk remedy by Indian people as a fertility medicine. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
• Lead poisoning - Indian Folk Remedies - Kandu: Kandu (red powder) is a folk remedy used mainly by Indian people to treat intestinal problems. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
• Lead poisoning - Indian Folk Remedies - Kohl: Kohl is a folk remedy used mainly by Indian people to treat skin infections and to manage the umbilical stump. It is also used as a cosmetic in Arab communities. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
• Lead poisoning - Indian Folk Remedies - Kushta: Kushta is a folk remedy used mainly by the Indian people as an aphrodisiac and to treat diseases involving organs such as the liver, brain, heart and stomach. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
• Lead poisoning - Indian Folk Remedies - Surma: Surma is a black powder used as a cosmetic as well as a folk remedy by Indian people to treat teething. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
• Lead poisoning - Iranian Folk Remedies - Bint Al Zahab: Bint Al Zahab is a folk remedy used mainly by Iranian people to treat infant colic and to facilitate the passage of meconium in newborns. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
• Lead poisoning - Kuwait Folk Remedies - Bokhoor: Bokhoor is a traditional used mainly by Kuwait people to calm infants - it involves burning wood and lead sulphide and inhaling the fumes that are produced. This practice has the potential to cause lead poisoning due to the relatively high exposure to lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
• Lead poisoning - Loas Folk Remedies - Pay-loo-ah: Pay-loo-ah is a folk remedy used mainly by the Hmong people from Loas to treat fever and rash. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
• Lead poisoning - Mexican Folk Remedies - Alarcon: Alarcon is a folk remedy used mainly by Mexican people to treat digestive or stomach problems including indigestion and diarrhea. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
• Lead poisoning - Mexican Folk Remedies - Albayaidle: Albayaidle is a folk remedy used mainly by Mexican people to treat digestive or stomach problems such as vomiting and colic. It is also used to treat apathy and lethargy. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
• Lead poisoning - Mexican Folk Remedies - Albayalde: Albayalde is a folk remedy used mainly by Mexican people to treat digestive or stomach problems such as vomiting and colic. It is also used to treat apathy and lethargy. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
• Lead poisoning - Mexican Folk Remedies - Azarcon: Azarcon is a lead-containing tetraoxide salt used mainly by Mexican people to treat digestive or stomach problems including indigestion and diarrhea. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
• Lead poisoning - Mexican Folk Remedies - Coral: Coral is a folk remedy used mainly by Mexican people to treat digestive or stomach problems including indigestion and diarrhea. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
• Lead poisoning - Mexican Folk Remedies - Greta: Greta is a lead-containing tetraoxide salt used mainly by Mexican people to treat digestive or stomach problems including indigestion and diarrhea. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
• Lead poisoning - Mexican Folk Remedies - Liga: Liga is a lead-containing tetraoxide salt used mainly by Mexican people to treat digestive or stomach problems including indigestion and diarrhea. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
• Lead poisoning - Mexican Folk Remedies - Luiga: Luiga is a folk remedy used mainly by Mexican people to treat digestive or stomach problems including indigestion and diarrhea. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
• Lead poisoning - Mexican Folk Remedies - Maria Luisa: Maria Luisa is a lead-containing tetraoxide salt used mainly by Mexican people to treat digestive or stomach problems including indigestion and diarrhea. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
• Lead poisoning - Middle East Folk Remedies - Surma: Surma is a black powder used as a cosmetic as well as a folk remedy by Middle East people to treat teething. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
• Lead poisoning - Middle Eastern Folk Remedies - Alkohl: Alkohl is a folk remedy used mainly by Middle Eastern people to treat skin infections and to manage the umbilical stump. It is also used as a cosmetic in Arab communities. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
• Lead poisoning - Middle Eastern Folk Remedies - Anzroot: Anzroot is a folk remedy used mainly by Middle Eastern people to treat gastroenteritis. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
• Lead poisoning - Middle Eastern Folk Remedies - Cebagin: Cebagin is a folk remedy used mainly by Middle Eastern people to treat teething. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
• Lead poisoning - Middle Eastern Folk Remedies - Henna: Henna is used mainly by Middle Eastern people as a hair and skin dye. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
• Lead poisoning - Middle Eastern Folk Remedies - Kohl: Kohl is a folk remedy used mainly by Middle Eastern people to treat skin infections and to manage the umbilical stump. It is also used as a cosmetic in Arab communities. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
• Lead poisoning - Middle Eastern Folk Remedies - Saoot: Saoot is a folk remedy used mainly by Middle Eastern people to treat digestive eye injuries, teething and to manage the umbilical stump in newborns. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
• Lead poisoning - Pakistan Folk Remedies - Kohl: Kohl is a folk remedy used mainly by Pakistani people to treat skin infections and to manage the umbilical stump. It is also used as a cosmetic in Arab communities. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
• Lead poisoning - Pakistan Folk Remedies - Kushta: Kushta is a folk remedy used mainly by the Pakistani people as an aphrodisiac and to treat diseases involving organs such as the liver, brain, heart and stomach. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
• Lead poisoning - Pakistan Folk Remedies - Surma: Surma is a black powder used as a cosmetic as well as a folk remedy by Pakistani people to treat teething. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
• Lead poisoning - Pakistani eye cosmetics: Exposure to lead can result from the use of Pakistani eye cosmetics contaminated with lead. The most frequent cases have been noted in children as they are more sensitive to the effects of lead. Lead exposure can cause elevated levels of lead in the blood which in turn can cause various symptoms depending on the severity and duration of the exposure.
• Lead poisoning - Saudi Arabian Folk Remedies - Al Murrah: Al Murrah is a folk remedy used mainly by Saudi Arabian people to treat problems such as stomach pain, diarrhea and colic. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
• Lead poisoning - Saudi Arabian Folk Remedies - Bint Dahab: Bint Dahab is a folk remedy used mainly by Saudi Arabian people to treat such things as constipation, diarrhea, colic and various other infant conditions. It is also used by Saudi Arabian jewelers. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
• Lead poisoning - Saudi Arabian Folk Remedies - Bokhoor: Bokhoor is a traditional used mainly by Saudi Arabian people to calm infants - it involves burning wood and lead sulphide and inhaling the fumes that are produced. This practice has the potential to cause lead poisoning due to the relatively high exposure to lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
• Lead poisoning - Saudi Arabian Folk Remedies - Farouk: Farouk is a folk remedy by Saudi Arabian people to treat teething. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
• Lead poisoning - Saudi Arabian Folk Remedies - Santrinj: Santrinj is a paint primer but is also used as a folk remedy mainly by Saudi Arabian people to treat teething and gum boils. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
• Lead poisoning - Saudi Folk Remedies - Traditional Saudi medicine: Traditional Saudi medicine is a folk remedy used mainly by Saudi people to treat teething and diarrhea. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
• Lead poisoning - Tamarind candy: Eating tamarind candy jam products made in Mexico can lead to exposure to lead as the product is often packaged in lead-containing containers which can leach lead. The most frequent cases have been noted in children as they are more sensitive to the effects of lead. Elevated levels of lead in the blood can cause various symptoms depending on the severity and duration of the exposure.
• Lead poisoning - Tibetan Folk Remedies - Tibetan herbal vitamin: Tibetan herbal vitamin is a folk remedy used mainly by Tibetan people to improve brain functioning. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
• Learning disabilities: Difficulty with learning or schooling.
• Learning disability: A disorder that is characterized by a difficulty in learning and applying knowledge
• Leigh syndrome: A rare, progressive, neurological disorder characterized by the degeneration of the brain and impaired function of various body organs. The condition is caused by a systemic deficiency of the cytochrome C oxidase enzyme.
• Leigh syndrome, French Canadian type: A rare, progressive, inherited metabolic disorder where a deficiency of the enzyme cytochrome C oxidase affects skeletal muscles, connective tissue, brain and liver.
• Leigh syndrome, Saguenay-Lac-St. Jean type: A rare, progressive, inherited metabolic disorder where a deficiency of the enzyme cytochrome C oxidase affects skeletal muscles, connective tissue, brain and liver.
• Lenz Microphthalmia Syndrome: A condition which is characterized by an abnormally small eye
• Leprechaunism: A very rare genetic disorder characterized by insulin resistance which leads to growth delay and endocrine system abnormalities.
• Lesch-Nyhan syndrome: Inherited biochemical disorder of purine metabolism caused by the virtual absence of an enzyme called hypoxanthine-guanine phosphoribosyltransferase or HPRT.
• Lethal arthrogryposis with anterior horn cell disease (LAAHD): A lethal disorder characterized by arthrogryposis and loss of anterior horn motor neurons which results in a lack of fetal movement.
• Leucinosis: A term used to describe high levels of leucine in the body. It is associated with a metabolic disorder called maple syrup urine disease where there is a deficiency of an enzyme needed to break down leucine so it builds up within the body.
• Leukeran - Teratogenic Agent: There is evidence to indicate that exposure to Leukeran (a chemotherapy drug) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Leukocyte adhesion deficiency (LAD): A rare inherited disorder characterized by abnormal neutrophil functioning which reduces the body's immunity. The abnormal neutrophils are unable to be transported to sites of infection due to their inability to adhere to certain blood vessel components which would normally lead them to the infection site. Infections may be life-threatening as the body is unable to destroy bacteria effectively. There are two subtypes with type I resulting in more infections and a lesser degree of developmental delay.
• Leukomalacia: Softening or destruction of the white matter of the brain. Brain tissue that surrounds fluid-filled parts of the brain (ventricles) is destroyed. It tends to occur mainly in premature or newborn babies who have been deprived of oxygen or have poor blood flow to parts of the brain. Intrauterine infections and premature membrane rupture tend to predispose infants to this condition. This type of brain destruction can cause cerebral palsy. Severity of symptoms varies according to the degree of injury to the brain.
• Leukomelanoderma - Infantalism - Mental Retardation - Hypodontia - Hypotrichosis: A rare syndrome characterized by poor growth, mental retardation and hair, tooth and skin anomalies.
• Leukomelanoderma, infantilism, mental retardation, hypodontia, hypotrichosis: A very rare condition characterized by areas of increased and decreased skin pigmentation, mental retardation and sparse hair
• Levothyroxine - Teratogenic Agent: There is evidence to indicate that exposure to Levothyroxine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Liga-induced lead poisoning: Liga is a lead-containing tetraoxide salt used mainly by Mexican people to treat digestive or stomach problems including indigestion and diarrhea. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
• Lightwood-Albright syndrome: A rare syndrome caused by kidney dysfunction.
• Limb-girdle muscular dystrophy type 1E: An autosomal dominant form of limb-girdle muscular dystrophy where muscle weakness and atrophy is caused by mutations of chromosome 7. The heart is also affected in this condition.
• Lindsay-Burn syndrome: A very rare syndrome characterized mainly by mental retardation, psychosis and enlarged testes.
• Lindstrom syndrome: A rare disorder characterized by mental retardation, facial anomalies, short stature and seizures.
• Liotrix - Teratogenic Agent: There is evidence to indicate that exposure to Liotrix during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Lipoamide dehydrogenase deficiency: A very rare enzyme deficiency (dihydrolipoamide dehydrogenase) which can cause lactic acidosis. The age of onset and symptoms are variable.
• Lisinopril - Teratogenic Agent: There is evidence to indicate that exposure to Lisinopril during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Lissencephaly 3: A rare brain malformation where the surface of the brain is smoother than normal. The brain abnormality causes symptoms such as mental retardation and seizures. The severity of the disorder is variable and is caused by a genetic defect on chromosome 12q12-q14.
• Lissencephaly type 1, due to LIS 1 anomalies: A rare brain malformation where the surface of the brain is smoother than normal. Type 1 is caused by a defect on the LIS1 gene on chromosome 17p13.3. The severity of the symptoms are variable depending on the severity of the brain abnormality. Miller-Dieker syndrome is a subtype of this condition.
• Lissencephaly with cerebellar hypoplasia: Abnormal brain development characterized by an abnormally smooth brain surface and an underdeveloped cerebellum. The severity of the disorder is variable but often involves seizures and mental retardation.
• Lissencephaly with cerebellar hypoplasia, recessive: Abnormal brain development where the brain is abnormally smooth and the cerebellum is underdeveloped.
• Lobstein disease: A group of rare inherited diseases that involves fragile bones. There are many different types based on the severity and extent of symptoms. Some types are severe enough to cause stillbirth or infant death whereas other types may cause few if any problematic symptoms.
• Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency: A rare inherited genetic condition where the body is unable to convert certain fats to energy i.e. there is not enough of a certain enzyme (3-hydroxyacyl-coenzyme A dehydrogenase) which is needed to metabolize a type of fat called long-chain fatty acids. The build-up of these fatty acids in the body causes damage.
• Lorazepam - Teratogenic Agent: There is evidence to indicate that exposure to Lorazepam during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Low birth weight - dwarfism - dysgammaglobulinemia: A very rare syndrome characterized mainly by low birth weight, short stature and a immune system abnormality.
• Lowry-Maclean syndrome: A very rare syndrome characterized mainly by mental retardation, retarded growth, glaucoma, congenital heart defects and premature fusion of skull bones.
• Luiga-induced lead poisoning: Coral is a folk remedy used mainly by Mexican people to treat digestive or stomach problems including indigestion and diarrhea. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
• Lumbar malsegmentation - short stature: A very rare syndrome characterized mainly by short stature and abnormal segmentation of the vertebrae in the abdominal segment of the spine.
• Lymphangiectasies and lymphedema Hennekam type: A rare disorder characterized by buildup of lymphatic fluid in the limbs, face and genitals, seizures and mental and growth retardation.
• Lymphoedema - lymphangiectasia - mental retardation: A rare disorder characterized by buildup of lymphatic fluid in the limbs, face and genitals, seizures and mental and growth retardation.
• M/SCHAD deficiency: A rare inherited form of biochemical disorder characterized by the deficiency of a particular enzyme (3-Hydroxyacyl-CoA Dehydrogenase). The enzyme deficiency only affects certain body tissues, in particular the skeletal muscles. The lack of enzyme activity prevents some fats being converted into energy. Symptoms tend to be exacerbated during fasting as during fasting, the body tries to rely more heavily on fats for energy. Fatty acids that are not completely metabolized due to the enzyme deficiency may build up in various organs and cause serious complications.
• MDMA - Teratogenic Agent: There is evidence to indicate that exposure to MDMA during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• MMI - Teratogenic Agent: There is evidence to indicate that exposure to MMI during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• MPS 3 C: A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) due to deficiency of an enzyme called acetyl-CoA:alpha-glucosamide N-acetyltransferase. Mucopolysaccharide levels build up and are then deposited in various tissues.
• MRXS-Christianson: A very rare syndrome characterized mainly by mental retardation, mutism, facial anomalies, epilepsy and weak eye muscles. Males tended to have severe mental retardation whereas female carriers had mild or no mental retardation. Patients do eventually walk but then often lose this ability by the age of 10 years. Female carriers tend to have mild symptoms and males have severe symptoms - symptoms are variable to some degree.
• MacDermot-Winter syndrome: A very rare syndrome characterized mainly by a small head, underdeveloped genitalia and a protrusion of the area between the eyes (glabella).
• Macrocephaly, facial abnormalities, disproportionate tall stature and mental retardation: A rare syndrome characterized by tall stature, mental retardation, large head and facial abnormalities.
• Macules hereditary congenital hypopigmented hyperpigmented: A rare inherited genetic disorder involving small flat areas increased and decreased skin pigmentation.
• Macules, hereditary, congenital hypopigmented and hyperpigmented: A rare inherited genetic disorder involving small flat areas increased and decreased skin pigmentation.
• Maffucci Syndrome: A rare genetic disorder characterized by benign cartilage overgrowths, skeletal deformities and dark red irregular skin patches.
• Magnesium Sulfate - Teratogenic Agent: There is evidence to indicate that exposure to Magnesium Sulfate during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Majeed syndrome: A rare syndrome characterized by blood abnormality and recurring bone infections.
• Malonic aciduria: A very rare genetic disorder where a deficiency of a particular enzyme (malonyl-CoA decarboxylase) impairs the body's ability to convert fatty acids into energy that can be used by muscles such as the heart muscle. Fatty acids also accumulate in the body as they are not metabolized.
• Manouvrier syndrome: A very rare syndrome characterized mainly by the failure of the lungs to develop fully, heart defects and thumb abnormalities.
• Maple syrup urine disease: An inherited metabolic disorder involving amino acid metabolism and characterized by a sweet smelling urine, similar to maple syrup.
• Maple syrup urine disease, type 1A: A very rare inherited metabolic disorder involving abnormal metabolism of branched chain amino acids (leucine, isoleucine and valine) and resulting in severe illness which generally leads to death if not treated. Even mild form can result in mental and physical retardation if untreated. Various types of maple syrup urine disease involve different genetic defects - type 1A specifically involves a defect in the E1-alpha subunit gene.
• Maple syrup urine disease, type 1B: A very rare inherited metabolic disorder involving abnormal metabolism of branched chain amino acids (leucine, isoleucine and valine) and resulting in severe illness which generally leads to death if not treated. Even mild form can result in mental and physical retardation if untreated. Various types of maple syrup urine disease involve different genetic defects - type 1B specifically involves a defect in the E1-beta subunit gene.
• Maple syrup urine disease, type II: A very rare inherited metabolic disorder involving abnormal metabolism of branched chain amino acids (leucine, isoleucine and valine) and resulting in severe illness which generally leads to death if not treated. Even mild form can result in mental and physical retardation if untreated. Various types of maple syrup urine disease involve different genetic defects - type 2 specifically involves a defect in the E2 subunit gene.
• Maple syrup urine disease, type III: A very rare inherited metabolic disorder involving abnormal metabolism of branched chain amino acids (leucine, isoleucine and valine) and resulting in severe illness which generally leads to death if not treated. Even mild form can result in mental and physical retardation if untreated. Various types of maple syrup urine disease involve different genetic defects - type 3 specifically involves a defect in the E3 subunit gene.
• Marasmus: A form of malnutrition caused by a severe deficiency of both protein and calories
• Marden-Walker Syndrome: A rare genetic disorder characterized by blepharophimosis, joint contractures and fixed facial expression.
• Maria Luisa-induced lead poisoning: Maria Luisa is a lead-containing tetraoxide salt used mainly by Mexican people to treat digestive or stomach problems including indigestion and diarrhea. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
• Marijuana - Teratogenic Agent: There is evidence to indicate that exposure to Marijuana during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Marijuana abuse: Illicit depressant/hallucinogenic drug
• Marijuana addiction: Marijuana addiction is the uncontrollable desire to use marijuana on a regular basis. Frequent use leads to an increased tolerance to the drug so higher and higher doses are required to achieve the desired euphoric feeling.
• Marsden-Nyhan-Sakati syndrome: A very rare syndrome characterized mainly by reduced parathyroid hormone level, low growth hormone level and other minor abnormalities.
• Maternal hyperphenylalaninemia: A rare disorder where a mother suffering from phenylketonuria during pregnancy can result in various birth abnormalities.
• Maternally Inherited Leigh Syndrome: A rare condition where Leigh syndrome is inherited from the mother. Leigh syndrome is characterized by degeneration of the brain and impaired function of various organs.
• Maxillofacial dysostosis: A rare inherited disorder characterized by jaw, ear and eye abnormalities as well as speech problems.
• McCune-Albright Syndrome: A rare genetic multisystem disorder characterized by abnormal skin pigmentation and endocrine gland dysfunction and replacement of parts of bone tissue with fibrous material.
• Mechlorethamine - Teratogenic Agent: There is evidence to indicate that exposure to Mechlorethamine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Meckel Syndrome: A rare genetic disorder involving numerous abnormalities and characterized by death within the first few weeks.
• Medium and long chan 3-hydroxyacyl-coenzyme A dehydrogenase deficiency: A metabolic disorder characterized by the deficiency of an enzyme (3-hydroxyacyl-coenzyme A dehydrogenase) which is needed to metabolise long and medum-chain fatty acids. The severity of symptoms may vary depending on the degree of the deficiency.
• Medium and short chain 3-hydroxyacyl-CoA dehydrogenase deficiency: A rare inherited form of biochemical disorder characterized by the deficiency of a particular enzyme (3-Hydroxyacyl-CoA Dehydrogenase). The enzyme deficiency only affects certain body tissues, in particular the skeletal muscles. The lack of enzyme activity prevents some fats being converted into energy. Symptoms tend to be exacerbated during fasting as during fasting, the body tries to rely more heavily on fats for energy. Fatty acids that are not completely metabolized due to the enzyme deficiency may build up in various organs and cause serious complications.
• Mefloquine - Teratogenic Agent: There is evidence to indicate that exposure to Mefenamic Acid during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Megalencephalic leukoencephalopathy with subcortical cysts: A very rare syndrome characterized mainly by a progressive brain destruction that causes mental retardation and incoordination that starts early in life.
• Megalencephaly: Abnormally large brain.
• Mehes syndrome: A very rare syndrome characterized mainly by delayed speech, an asymmetrical face, crossed eyes and ear lobe creases.
• Meigel Disease: A rare connective tissue disorder characterized by abnormal collagen which has abnormal alpha-2 chains.
• Melanoma - astrocytoma syndrome: A rare syndrome characterized by the association of a melanoma with a type of brain tumor called an astrocytoma. The exact symptoms may vary depending on the exact location of the brain tumor.
• Melphalan - Teratogenic Agent: There is evidence to indicate that exposure to Melphalan during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Mende syndrome: A rare condition characterized by congenital deafness, mutism, partial albinism and a mongoloid face as well as other anomalies.
• Meningococcal Vaccine - Teratogenic Agent: There is evidence to indicate that exposure to Meningococcal Vaccine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Meningoencephalocele: A very rare developmental disorder where a part of the membrane that covers the brain and or part of the brain itself protrudes through an abnormal opening in the skull. The condition may be asymptomatic or if the defect is large, severe neurological abnormalities may result.
• Menkes Disease: Genetic disease of copper deficiency.
• Mental mixed retardation - deafness - clubbed digits: A rare disorder characterized mainly by mental retardation, deafness and clubbed fingers.
• Mental retardation progressive spasticity, X-linked: A very rare syndrome characterized mainly by mental retardation and progressive spasticity and seizures. The disorder is X-linked and hence only affects males.
• Mental retardation, Behavior disturbance, Sensorineural hearing loss: A very rare condition reported in three members of one family. The condition is characterized by mental retardation, behavioral problems and deafness.
• Mental retardation, Microcephaly, Epilepsy and Ataxia Syndrome: A very rare syndrome characterized mainly by mental retardation, mutism, facial anomalies, epilepsy and weak eye muscles. Males tended to have severe mental retardation whereas female carriers had mild or no mental retardation. Patients do eventually walk but then often lose this ability by the age of 10 years. Female carriers tend to have mild symptoms and males have severe symptoms - symptoms are variable to some degree.
• Mental retardation, X-linked - craniofacial dysmorphology - epilepsy - ophthalmoplegia - cerebellar atrophy: A very rare syndrome characterized mainly by mental retardation, mutism, facial anomalies, epilepsy and weak eye muscles. Males tended to have severe mental retardation whereas female carriers had mild or no mental retardation. Patients do eventually walk but then often lose this ability by the age of 10 years. Female carriers tend to have mild symptoms and males have severe symptoms - symptoms are variable to some degree.
• Mental retardation, X-linked, 12: A rare form of mental retardation inherited in a X-linked manner. It occurs as a result of a defect on chromosome Xp11.
• Mental retardation, X-linked, 16: A rare form of mental retardation inherited in a X-linked manner. It occurs as a result of a defect in the MECP2 gene on chromosome Xq28. Females tended to be affected as well as males although to a lesser degree.
• Mental retardation, X-linked, Brooks type: A rare syndrome characterized by mental retardation, unusual facial appearance and retarded growth.
• Mental retardation, X-linked, Martinez type: A type of X-linked mental retardation discovered by Martinez.
• Mental retardation, X-linked, Reish type: A rare disorder characterized by mental retardation, brain anomalies, skeletal malformations, intestinal problems, eye and ear anomalies, cleft palate and kidney abnormalities. Some infants with the disorder die soon after birth due to breathing problems. The disorder is inherited in a X-linked manner which means that only males display the full range of symptoms whereas female carriers may have mild or no symptoms.
• Mental retardation, X-linked, Seemanova type: A rare X-linked disorder characterized by mental retardation, retarded growth and small genitals. The disorder is inherited in a X-linked manner which means that only males display the full range of symptoms whereas female carriers may have mild or no symptoms.
• Mental retardation, X-linked, Wittner type: A type of X-linked mental retardation discovered by Wittner.
• Mental retardation, X-linked, Wittwer type: A rare disorder characterized by severe mental retardation, retarded growth, seizures and vision and hearing problems. The disorder is inherited in a X-linked manner which means that only males display the full range of symptoms whereas female carriers may have mild or no symptoms.
• Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance: A very rare syndrome characterized by moderate to severe mental retardation, unusual facial appearance and an underdeveloped brain.
• Mephenytoin - Teratogenic Agent: There is evidence to indicate that exposure to Mephenytoin during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Mepindolol - Teratogenic Agent: There is evidence to indicate that exposure to Mepindolol during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Mercaptopurine - Teratogenic Agent: There is evidence to indicate that exposure to Mercaptopurine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Mesalamine - Teratogenic Agent: There is evidence to indicate that exposure to Mesalamine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Mesomelic dysplasia, Savarirayan type: A rare syndrome characterized mainly by limb and pelvic bone abnormalities which results in short stature. The shin bone is underdeveloped and the calf bone is absent.
• Metabolic disorder: occurs when abnormal chemical reactions occur in the body
• Metachromatic Leukodystrophy: An inherited biochemical deficiency involving a deficiency of the enzyme called arylsulfatase A which leads to a harmful buildup of fatty material in the body.
• Methacycline - Teratogenic Agent: There is evidence to indicate that exposure to Methacycline during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Methamphetamine - Teratogenic Agent: There is evidence to indicate that exposure to Methamphetamine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Methimazole (MMI) - Teratogenic Agent: There is evidence to indicate that exposure to Methimazole (MMI) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Methimazole antenatal infection: Fetal exposure to methimazole, an antithyroid agent.
• Methotrexate - Teratogenic Agent: There is evidence to indicate that exposure to Methotrexate during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Methyclothiazide - Teratogenic Agent: There is evidence to indicate that exposure to Methyclothiazide during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Methyldopa - Teratogenic Agent: There is evidence to indicate that exposure to Methyldopa during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Methylene tetrahydrofolate reductase deficiency: A inborn error of metabolism where an inherited deficiency of methylene tetrahydrofolate reductase causes symptoms of ranging severity - from asymptomatic to severe neurological degeneration and premature death.
• Methylmalonic acidemia - homocystinuria: A rare inborn error of metabolism which results in impaired vitamin B12 metabolism. There are a number of forms of this condition with variable severity.
• Methylmalonicaciduria with homocystinuria, cobalamin F: An inherited organic acid disorder where an enzyme deficiency (cbl F) impairs the body's ability to break down certain proteins (methionine, threonine, isoleucine and valine) consumed in the diet. This results in a buildup of methylmalonic acid and homocystine which results in harmful affects.
• Methylmalonicaciduria, vitamin B12 unresponsive, mut -: A metabolic disorder whose severity is somewhat variable with the degree of neurological involvement ranging from severe mental retardation to mild developmental delay. Some patients have no neurological involvement. The condition involves abnormal metabolism of vitamin B12 which doesn't respond to treatment using vitamin B12 administration. This disorder is less severe than the mut (0) form.
• Methylmalonicaciduria, vitamin B12 unresponsive, mut 0: A metabolic disorder whose severity is somewhat variable - most patients die within months of birth with survivors having neurological problems. The condition involves abnormal metabolism of vitamin B12 which doesn't respond to treatment using vitamin B12 administration. This disorder is more severe than the mut (-) form
• Metolazone - Teratogenic Agent: There is evidence to indicate that exposure to Metolazone during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Metoprolol - Teratogenic Agent: There is evidence to indicate that exposure to Metoprolol during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Metronidazole - Teratogenic Agent: There is evidence to indicate that exposure to Metronidazole during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Mevalonic aciduria: A rare disorder of amino acid metabolism characterized by a defect in the enzyme mevalonate kinase.
• Microcephalic osteodysplastic primordial dwarfism types 1 and 3: Microcephalic osteodysplastic primordial dwarfism types 1 and 3 were originally regarded as separate conditions but it was recently concluded that they were different expressions of the same condition. The main differences between the two forms is a difference in the radiological bone anomalies. The condition is characterized mainly by bone abnormalities, short stature and a small head.
• Microcephalic osteodysplastic primordial dwarfism, type 2: A very rare syndrome characterized mainly by
• Microcephalic osteodysplastic primordial dwarfism, type 3: A very rare syndrome characterized mainly by dwarfism.
• Microcephalic primordial dwarfism, Toriello type: A very rare syndrome characterized mainly by dwarfism, mental retardation and other anomalies.
• Microcephaly - facial clefting - preaxial polydactyly: A very rare condition characterized by the presence of an abnormally small head, facial clefts and extra digits.
• Microcephaly - mesobrachyphalangy - tracheoesophageal fistula syndrome: A very rare syndrome characterized by an abnormally small head, short fingers and an abnormal opening between the trachea and esophagus.
• Microcephaly - oculo-digito-esophageal-duodenal syndrome (MODED): A very rare syndrome characterized mainly by a small head and gastrointestinal, eye, finger, and toe abnormalities.
• Microcephaly developmental delay pancytopenia: A rare condition characterized mainly by the association of developmental delay, a small head and a blood abnormality called pancytopenia.
• Microcephaly immunodeficiency lymphoreticuloma: A very rare syndrome characterized mainly by a small head, reduced immunity and increased risk of cancer. There are a wide range of other abnormalities and symptoms that can occur.
• Microcephaly, hiatal hernia and nephrotic syndrome: A rare genetic disorder primarily involving physical and developmental abnormalities as well as kidney disease.
• Microencephaly: Small brain. The condition is often characterized by a small head and neurological problems. The type and severity of symptoms are variable.
• Microphthalmia syndromic, type 5: A rare inherited syndrome characterized by small eyes and various other abnormalities. The symptoms are variable to some degree.
• Microphthalmia syndromic, type 6: A rare inherited syndrome characterized mainly by small eyes, malformed ears, small jaw and finger and genital abnormalities. The symptoms are variable to some degree.
• Microphthalmia, Lentz type: A condition which is characterized by an abnormally small eye as well as other variable symptoms.
• Microphthalmia, syndromic 1: A condition which is characterized by an abnormally small eye as well as other variable symptoms.
• Microphthalmia, syndromic 7: A rare genetic disorder characterized by eye and skin abnormalities involving irregular red streaks of skin on the head and neck.
• Microvillus Inclusion Disease: A rare, inherited, progressive intestinal disease where a defect in the intestinal wall results in severe diarrhea after birth.
• Midface hypoplasia, corneal clouding, subvalvular aortic stenosis and mental and somatic retardation: A rare syndrome characterized mainly by an underdeveloped midface, corneal clouding, mental and somatic retardation and narrowed aorta.
• Miescher syndrome (2): A rare inherited disorder characterized by pigmented velvety patches of skin, excess body hair, failure to thrive, retarded growth, diabetes and facial abnormalities.
• Miescher's syndrome: A rare familial syndrome characterized by various abnormalities including failure to thrive, retarded growth, diabetes, skin lesions and facial anomalies. The condition is essentially Miescher syndrome associated with diabetes mellitus.
• Mikaelian syndrome: A rare disorder characterized mainly by permanently flexed fingers, deafness and hair and teeth abnormalities.
• Mild citrullinemia: Citrullinemia is an inherited urea cycle disorder which causes toxic substances including ammonia to build up in the blood. There are two main subtypes of Citrullinemia (I and II) which are caused by different genetic abnormalities and result in different symptoms. Milder forms may present in childhood and rare late-onset forms (type II) may not cause symptoms until adulthood.
• Minicore disease: A rare congenital muscle disorder involving muscle weakness and wasting. The term minicore comes from the small core structures that occur in the muscle tissue. There are four subgroups of the disorder: classic form (rigid spine syndrome), progressive form with hand involvement, antenatal form with arthrogryposis multiplex congenital and the ophthalmoplegic form. The rate of progression and severity of symptoms is variable.
• Minicore myopathy with external ophthalmoplegia: A rare congenital muscle disorder involving muscle weakness and wasting. The term minicore comes from the small core structures that occur in the muscle tissue. There are four subgroups of the disorder: classic form (rigid spine syndrome), progressive form with hand involvement, antenatal form with arthrogryposis multiplex congenital and the ophthalmoplegic form. The ophthalmoplegic form is distinguished by the presence of eye muscle weakness. The severity of symptoms is variable.
• Minicore myopathy, antenatal onset, with arthrogryposis: A rare congenital muscle disorder involving muscle weakness and wasting. The term minicore comes from the small core structures that occur in the muscle tissue. There are four subgroups of the disorder: classic form (rigid spine syndrome), progressive form with hand involvement, antenatal form with arthrogryposis multiplex congenital and the ophthalmoplegic form. The antenatal form with arthrogryposis is distinguished by the presence of contractures at birth due to reduced fetal movement as well as various physical anomalies. The severity of symptoms is variable.
• Minicore myopathy, moderate, with hand involvement: A rare congenital muscle disorder involving muscle weakness and wasting. The term minicore comes from the small core structures that occur in the muscle tissue. There are four subgroups of the disorder: classic form (rigid spine syndrome), progressive form with hand involvement, antenatal form with arthrogryposis multiplex congenital and the ophthalmoplegic form. The progressive form with hand involvement is less severe than the classic form with breathing problems and scoliosis usually absent or mild. It is distinguished by the presence of hyperlaxity. The severity of symptoms is variable.
• Minocycline - Teratogenic Agent: There is evidence to indicate that exposure to Minocycline during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Misoprostol - Teratogenic Agent: There is evidence to indicate that exposure to Misoprostol during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Mitochondrial DNA depletion syndrome: A group of conditions called mitochondrial disorders involving a reduced number of mitochondrial DNA in tissues rather than defective mitochondrial DNA. The disorders generally involve neurological symptoms which can occur during infancy or childhood. Symptoms will vary depending on the specific order involved.
• Mitochondrial encephalomyopathy - aminoacidopathy: A very rare syndrome characterized mainly by muscle and brain disease and an amino acid disorder.
• Mitochondrial myopathy - lactic acidosis: A very rare syndrome characterized mainly by muscle disease and a metabolic disorder. The severity and progression of the disease is variable with some dying early in their second decade and others living longer.
• Monosomy 13q32: A rare chromosomal disorder where a portion of the long arm (q32) of chromosome 13 is deleted resulting in various physical, neurological and developmental abnormalities. The type and severity of symptoms can vary amongst patients.
• Monosomy 1p36: A rare chromosomal disorder where deletion of a portion of chromosome 1 causes various abnormalities such as heart problems, mental retardation, developmental delay, facial dysmorphism and short stature. The range and severity of symptoms is variable with some cases being relatively mild.
• Monosomy 20p: A rare chromosomal disorder where the short arm (p) of chromosome 20 is deleted resulting in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is deleted.
• Morquio syndrome: A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) in various body tissues due to insufficient amounts of the enzyme (galactosamine-?-sulfate - type A, ? galactosidase - type B) needed to break it down. The symptoms are variable with type A and B being clinically indistinguishable.
• Morquio syndrome type A: A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) in various body tissues due to insufficient amounts of the enzyme (galactosamine-?-sulfate) needed to break it down.
• Mowat-Wilson syndrome: A very rare syndrome characterized mainly by mental retardation, a small head, characteristic facial appearance and various other abnormalities.
• Mucolipidoses: A group of inherited metabolic disorders involving the accumulation of carbohydrates (glycosaminoglycans) and lipids within the tissues of the body due to a deficiencies or abnormal action of various lysosomal enzymes. This abnormal accumulation of carbohydrates and lipids within cells causes them to be damaged which often results in symptoms such as mental retardation and skeletal deformities. Symptoms may become apparent at birth or during childhood or adolescence. Premature death can occur in severe cases. There is a vast array of symptoms that can occur depending on the specific disorder involved.
• Mucopolysaccharidoses: A lysosomal storage disorder that is caused by a deficiency of the ability to metabolise glycosaminoglycans
• Mucopolysaccharidosis 1: A rare inherited condition caused by the absence of certain lysosomal enzymes which are needed to break down mucopolysaccharides. Without these enzymes, mucopolysaccharides build up in various body organs and tissues which causes harmful effects. There are three subtypes of the condition: Hurler, Scheie and Hurler-Scheie with Hurler being the most severe and Scheie the mildest.
• Mucopolysaccharidosis type 2 Hunter syndrome- mild form: A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) in various body tissues due to insufficient amounts of the enzyme (iduronidate 2-sulfatase) needed to break it down.
• Mucopolysaccharidosis type 6: A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) in various body tissues due to insufficient amounts of the enzyme (Arylsulfatase ?) needed to break it down.
• Mucopolysaccharidosis type 7 Sly syndrome: A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) in various body tissues due to insufficient amounts of the enzyme (beta-glucuronidase) needed to break it down.
• Mucopolysaccharidosis type I Hurler syndrome: A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) in various body tissues due to insufficient amounts of the enzyme (?-L-diuronidase) needed to break it down. There are three main sub-types of the disorder: Hurler - severe form, Scheie - mild form and Hurler/Scheie form which is intermediate.
• Mucopolysaccharidosis, type 9: A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) in various body tissues due to insufficient amounts of an enzyme (hyaluronidase) needed to break it down.
• Mulibrey Nanism syndrome: A very rare inherited malformation characterized by very small stature (dwarfism), pericardial constriction and yellow dots in fundus of the eye.
• Multicore disease: A nonprogressive congenital muscle disease which mainly involves weakness of the proximal muscles. The severity of symptoms is variable.
• Multifocal heterotopia: A rare inherited disorder where a part of the brain tissue is misplaced during development. More specifically, brain tissue is abnormally located in multiple locations within the brain.
• Multiminicore disease (MmD): A rare congenital muscle disorder involving weakness and wasting of skeletal muscles. The term minicore comes from the small core structures that occur in the muscle tissue. There are four subgroups of the disorder: classic form (rigid spine syndrome), progressive form with hand involvement, antenatal form with arthrogryposis multiplex congenital and the ophthalmoplegic form. The rate of progression and severity of symptoms is variable.
• Multiple Skeletal abnormalities with Anterior Segment Anomalies of the Eye and Early Lethality: A rare condition characterized by various skeletal and eye abnormalities and early death. The parents of the children reported with the condition are believed to be related.
• Multiple congenital anomalies - mental retardation - growth failure and cleft lip/ palate: A very rare syndrome characterized mainly by mental retardation, growth failure, cleft lip, cleft palate and various other abnormalities.
• Multiple endocrine abnormalities - adenylyl cyclase dysfunction: A rare syndrome characterized by an enzyme defect (adenylyl cyclase) and a number of endocrine abnormalities.
• Multiple pterygium syndrome: A very rare disorder characterized by webbing of various parts of the body, contractures, short stature, fusion of neck vertebrae and facial anomalies.
• Multiple pterygium syndrome, autosomal recessive: A very rare disorder characterized by webbing of various parts of the body, contractures, short stature, fusion of neck vertebrae and facial anomalies.
• Muscular dystrophy congenital, merosin negative: A rare group of diseases characterized mainly by reduced muscle tone and muscle weakness in the arms, legs and trunk. Symptoms start at birth or soon after.
• Muscular dystrophy congenital, with integrin deficiency: A congenital muscle wasting disease resulting from genetic mutation resulting in the deficiency of a compound called integrin.
• Muscular dystrophy, congenital, merosin-positive: A very rare group of diseases that involves early infantile onset of muscle weakness, loss of muscle tone and contractures.
• Muscular dystrophy, limb-girdle type 2M: An autosomal recessive form of limb-girdle muscular dystrophy where muscle weakness and atrophy is caused by a defect in the fukutin gene on chromosome 9q31.
• Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency: A genetic, nonprogressive neuromuscular disorder causing muscle weakness. The severity of symptoms is variable and stress and illness can exacerbate symptoms.
• Myhre-Ruvalcaba-Graham syndrome: A rare disorder characterized by mental retardation, retarded growth before and after birth, early-onset deafness and facial anomalies as well as other problems.
• Myoclonic epilepsy benign, adult, familial: A rare familial disorder characterized by muscle jerking and seizures in adults. The disorder is not progressive and is fairly harmless with only minor fine motor control problems.
• Myopathy - growth and mental retardation - hypospadias: A very rare syndrome characterized mainly by muscle disease, retarded growth, mental retardation and abnormally placed urethral opening.
• Myopathy - growth delay - mental retardation - hypospadias: A very rare syndrome characterized mainly by muscle disease, retarded growth, mental retardation and abnormally placed urethral opening.
• Myopathy congenital multicore with external ophthalmoplegia: A rare disorder characterized by muscle weakness and as well as weakness or paralysis of the external eye muscles. Severity of symptoms are variable.
• Myopathy, congenital nonprogressive with Moebius and Robin sequences: A rare inherited disorder characterized by nonprogressive muscle weakness from birth as well as the Moebius (congenital facial palsy with impaired ability to move eyes) and Pierre Robin sequence (underdeveloped jaw, cleft soft palate, abnormal tongue position).
• Myopathy, early-onset with fatal cardiomyopathy: A rare disorder involving muscle disease and early onset heart disease which leads to death.
• N syndrome: A rare genetic disorder characterized by mental and physical retardation, eye abnormalities, retarded growth, hearing impairment and a high risk of developing cancers, particularly leukemia. It is an extremely rare condition originally described in two brothers.
• N-acetyl glutamate synthetase deficiency: A rare inherited urea cycle disorder where a lack of a certain enzyme (N-acetyl glutamate synthetase) results in accumulation of ammonia in the blood as it can't be broken down and removed through the urine.
• NADH CoQ reductase, deficiency of: A rare genetic defect where an enzyme deficiency (NADH CoQ) disrupts cellular processes and causes various organic acid disorders. Any of a variety of the components of the enzyme may be missing or defective and hence the clinical presentation and severity may vary. Presentation may range from infantile death to various disorders neurodegenerative disorders such as Leigh's disease, Parkinson's disease and cardiomyopathy.
• NOMID syndrome: A rare autoinflammatory disease characterized by fever, rash, arthritic changes, eye problems and chronic meningitis.
• Nablus mask-like facial syndrome: A rare disorder characterized by an unusual mask-like facial appearance.
• Nadolol - Teratogenic Agent: There is evidence to indicate that exposure to Nadolol during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Narcotic addiction: An uncontrollable desire to use narcotics on a regular basis. The drug may be used as a therapeutic medication for various conditions but it's use is also frequently abused. Examples of narcotic drugs include heroin, morphine, Demerol and codeine. Frequent use leads to an increased tolerance to the drug so higher and higher doses are required to achieve the desired euphoric feeling.
• Nathalie syndrome: A very rare condition described in four children of one family. The condition is characterized by wasting of the spine muscles, abnormal heart electrical activity, cataracts, hypogonadism and hearing impairment.
• Nemaline myopathy 2: A very rare inherited muscle disorder and is characterized by muscle weakness caused by the presence of nemaline rods in the muscle tissue which affects its function. There are at least 7 different subtypes of nemaline myopathy, each with a different genetic defect. The severity of the symptoms may vary greatly even among patients within a particular subtype of the disorder. Type 2 is caused by a defect on the nebulin gene on chromosome 2q22.
• Nemaline myopathy 3: A very rare inherited muscle disorder and is characterized by muscle weakness caused by the presence of nemaline rods in the muscle tissue which affects its function. There are at least 7 different subtypes of nemaline myopathy, each with a different genetic defect. The severity of the symptoms may vary greatly even among patients within a particular subtype of the disorder. Type 3 is caused by a defect on the alpha-actin gene.
• Nemaline myopathy 4: A very rare inherited muscle disorder and is characterized by muscle weakness caused by the presence of nemaline rods in the muscle tissue which affects its function. There are at least 7 different subtypes of nemaline myopathy, each with a different genetic defect. The severity of the symptoms may vary greatly even among patients within a particular subtype of the disorder. Type 4 is caused by a defect on the tropomyosin 2 gene on chromosome 9p13.
• Nemaline myopathy 5: A very rare inherited muscle disorder and is characterized by muscle weakness caused by the presence of nemaline rods in the muscle tissue which affects its function. There are at least 7 different subtypes of nemaline myopathy, each with a different genetic defect. The severity of the symptoms may vary greatly even among patients within a particular subtype of the disorder. Type 5 is caused by a defect on the Troponin T1 gene on chromosome 19q13.4.
• Nemaline myopathy, early onset type: A rare inherited muscle disorder and is characterized by muscle weakness caused by the presence of nemalin rods in the muscle tissue which affects its function. The muscle weakness may be severe but is generally not a progressive condition. The main muscles affected are the limbs, neck and face
• Nephronophthisis 4: A genetic kidney disorder which causes kidney failure during adolescence. Other problems such as underdeveloped lungs may also be associated with the condition. Type 4 is caused by a defect in the NPHP4 gene.
• Nephropathic cystinosis: Cystinosis is a condition where excess amino acid cystine builds up to harmful levels in the body. The nephropathic form of cystinosis usually starts during infancy and can result in severe complications if untreated.
• Nephrosis neuronal dysmigration Syndrome: A rare genetic disorder primarily involving physical and developmental abnormalities as well as kidney disease. The type and severity of symptoms that can occur is variable.
• Neu-Laxova Syndrome: A rare fatal genetic disorder characterized by microcephaly and multiple congenital abnormalities. Death occurs during the fetal or newborn stage.
• Neurofibromatosis-2: Genetic disorder often leading to tumors on nerves.
• Neuronal Migration Disorders: Group of disorders caused by abnormal growth of nerves in the brain and head.
• Neuropathy - ataxia - retinitis pigmentosa: A rare inherited disorder where defects in the energy producing part of cells affects the nervous system and causes symptoms such as muscle and vision problems. Severity and rang of symptoms are variable.
• Neuropathy ataxia and retinis pigmentosa: A rare inherited disorder where defects in the energy producing part of cells affects the nervous system and causes symptoms such as muscle and vision problems. Severity and rang of symptoms are variable.
• Neuropathy, Hereditary Sensory, Type IV: A rare disorder characterized mainly by insensitivity to pain and inability to sweat.
• Nezelof's syndrome: An immune deficiency disorder where the cells that normally fight infection don't work properly and patients suffer frequent severe infections.
• Nicoumalone - Teratogenic Agent: There is evidence to indicate that exposure to Nicoumalone during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Niemann-Pick disease, type B: Niemann-Pick disease is an inherited metabolic disorder where lipids are not able to be metabolized adequately and hence build up and cause damage in various parts of the body such as the spleen, liver, lungs, bone marrow and brain. The different types of the disease are due to different genetic mutations. Type B is a chronic form of the condition with no neurological involvement and patients can survive into adulthood.
• Niemann-Pick disease, type C1: Niemann-Pick disease is an inherited metabolic disorder where lipids are not able to be metabolized adequately and hence build up and cause damage in various parts of the body such as the spleen, liver, lungs, bone marrow and brain. The different types of the disease are due to different genetic mutations. Type C is a juvenile or subacute form of the condition which usually starts during childhood and survival into adulthood is possible.
• Niemann-Pick disease, type C2: Niemann-Pick disease is an inherited metabolic disorder where lipids are not able to be metabolized adequately and hence build up and cause damage in various parts of the body such as the spleen, liver, lungs, bone marrow and brain. The different types of the disease are due to different genetic mutations. Type C is a juvenile or subacute form of the condition which usually starts during childhood and survival into adulthood is possible.
• Nifedipine - Teratogenic Agent: There is evidence to indicate that exposure to Nifedipine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Nijmegen Breakage Syndrome: A very rare syndrome characterized mainly by a small head, reduced immunity and increased risk of cancer. There are a wide range of other abnormalities and symptoms that can occur.
• Nimesulide - Teratogenic Agent: There is evidence to indicate that exposure to Nimesulide during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Nivelon-Nivelon-Mabille syndrome: A very rare syndrome characterized mainly by severe dwarfism, abnormal bone development and central nervous system and eye problems.
• Non-lissencephalic cortical dysplasia: A brain development abnormality characterized by the development of small brain convolutions that generally cause mental retardation. Symptoms depend on the location and extent of the abnormality.
• Noonan syndrome 3: A genetic condition characterized by short stature, distinctive facial characteristics, learning difficulties, congenital heart conditions and various other anomalies.
• Noonan-like/multiple giant cell lesion syndrome: A rare condition characterized by short stature, widely spaced eyes, low-set ears, pulmonary stenosis and lesions on bones, joints or soft tissue. Lymphedema causes swelling that gives a cherubic appearance.
• Nutritional deficiency: Any deficiency of the nutrients that are required to sustain human life
• Nyssen-Van Bogaert-Meyer syndrome: A very rare genetic disorder characterized by progressive degeneration of the central nervous system.
• OFD syndrome type 8: A rare genetic disorder characterized by oral frenula, oral clefts, underdeveloped nose flaps and finger abnormalities.
• OFD syndrome type IX: A rare genetic disorder characterized by oral frenula, oral clefts, underdeveloped nose flaps and finger and retinal abnormalities.
• Obesity - colitis - hypothyroidism - cardiac hypertrophy - developmental delay: A rare syndrome characterized by obesity, colitis, hypothyroidism, enlarged heart and developmental delay. The two reported cases involved maternal HELLP syndrome during pregnancy. Both infants died within months of birth.
• Obesity, hypothyroidism, craniosynostosis, cardial hypertrophy, colitis and intellectual deficiency: A rare syndrome characterized by a variety of features including obesity, hypothyroidism, premature fusion of skull bones, enlarged heart, colitis and mental retardation. The two reported cases both involved the development of HELLP syndrome during the mother's pregnancy.
• Obstructive sleep apnea: Obstructive sleep apnea (OSA) syndrome is characterized by episodic upper airway obstruction that occurs during sleep.
• Occupational lead exposure - ammunition production: Exposure to lead can occur in people employed as ammunition makers if adequate precautions are not taken. Lead exposure can cause elevated levels of lead in the blood which in turn can cause various symptoms depending on the severity and duration of the exposure.
• Occupational lead exposure - battery manufacturing: Exposure to lead can occur in people employed in the battery manufacturing industry if adequate precautions are not taken. Lead exposure can cause elevated levels of lead in the blood which in turn can cause various symptoms depending on the severity and duration of the exposure.
• Occupational lead exposure - brass foundry: Exposure to lead can occur in people employed in the brass foundry industry if adequate precautions are not taken. Lead exposure can cause elevated levels of lead in the blood which in turn can cause various symptoms depending on the severity and duration of the exposure.
• Occupational lead exposure - ceramic production: Exposure to lead can occur in people employed in the ceramic production industry if adequate precautions are not taken. Lead exposure can cause elevated levels of lead in the blood which in turn can cause various symptoms depending on the severity and duration of the exposure.
• Occupational lead exposure - explosives production: Exposure to lead can occur in people employed in the explosives production industry if adequate precautions are not taken. Lead exposure can cause elevated levels of lead in the blood which in turn can cause various symptoms depending on the severity and duration of the exposure.
• Occupational lead exposure - furniture refinishing: Exposure to lead can occur in people employed in the furniture refinishing industry if adequate precautions are not taken. Lead exposure can cause elevated levels of lead in the blood which in turn can cause various symptoms depending on the severity and duration of the exposure.
• Occupational lead exposure - lead glass factury: Exposure to lead can occur in people employed in lead glass factories if adequate precautions are not taken. Lead exposure can cause elevated levels of lead in the blood which in turn can cause various symptoms depending on the severity and duration of the exposure.
• Occupational lead exposure - lead mine: Exposure to lead can occur in people employed in lead mines if adequate precautions are not taken. Lead exposure can cause elevated levels of lead in the blood which in turn can cause various symptoms depending on the severity and duration of the exposure.
• Occupational lead exposure - lead smelting: Exposure to lead can occur in people employed in the lead smelting industry if adequate precautions are not taken. Lead exposure can cause elevated levels of lead in the blood which in turn can cause various symptoms depending on the severity and duration of the exposure.
• Occupational lead exposure - painter: Exposure to lead can occur in painters if adequate precautions are not taken. Lead exposure can cause elevated levels of lead in the blood which in turn can cause various symptoms depending on the severity and duration of the exposure.
• Occupational lead exposure - pottery making: Exposure to lead can occur in people involved in pottery making if adequate precautions are not taken. Lead exposure can cause elevated levels of lead in the blood which in turn can cause various symptoms depending on the severity and duration of the exposure.
• Occupational lead exposure - radiator repair: Exposure to lead can occur in people employed in the radiator repair industry. The soldering required to repair the radiator can lead to the lead exposure if adequate precautions are not taken. Lead exposure can cause elevated levels of lead in the blood which in turn can cause various symptoms depending on the severity and duration of the exposure.
• Occupational lead exposure - ship building: Exposure to lead can occur in people employed in the ship building industry if adequate precautions are not taken. Lead exposure can cause elevated levels of lead in the blood which in turn can cause various symptoms depending on the severity and duration of the exposure.
• Occupational lead exposure - ship repairing: Exposure to lead can occur in people employed in the ship repairing industry if adequate precautions are not taken. Lead exposure can cause elevated levels of lead in the blood which in turn can cause various symptoms depending on the severity and duration of the exposure.
• Occupational lead exposure - smelting: Exposure to lead can occur in people employed in the smelting industry if adequate precautions are not taken. Lead exposure can cause elevated levels of lead in the blood which in turn can cause various symptoms depending on the severity and duration of the exposure.
• Oculocerebral hypopigmentation syndrome, type Preus: A very rare syndrome characterized mainly by eye, brain and pigmentation abnormalities.
• Oculocerebral syndrome with hypopigmentation: A rare inherited disorder involving lack of pigmentation and eye and brain defects caused by central nervous system abnormalities.
• Oculodigitoesophagoduodenal syndrome: A very rare syndrome characterized mainly by a small head and gastrointestinal, eye, finger, and toe abnormalities.
• Ofloxacin - Teratogenic Agent: There is evidence to indicate that exposure to Ofloxacin during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Ohtahara Syndrome: A very rare syndrome characterized mainly by epilepsy that starts within a month of birth.
• Okamuto Satomura syndrome: A very rare syndrome characterized mainly by kidney, heart and facial abnormalities as well as reduced muscle tone and mental retardation.
• Oligomeganephronic renal hypoplasia: A congenital renal hypoplasia associated with chronic renal failure in children. Also called oligomeganephronia.
• Oncogenic hypophosphatemic osteomalacia: A rare condition where a mesenchymal tumor causes low blood phosphate levels. This affects bone mineralization resulting weak, fragile bones and other symptoms.
• Opioid addiction: An uncontrollable desire to use opioids on a regular basis. Opioids may may be prescribed by a physician for the purpose of pain relief but patients may become physically dependent on the drug and continue to obsessively use it even after the condition it was prescribed for has resolved. In other cases, opioid addiction results from the illicit use of the drug for recreational purposes. Frequent use leads to an increased tolerance to the drug so higher and higher doses are required to achieve the desired euphoric feeling. Examples of opioids includes morphine, heroin, oxycodone and fentanyl.
• Opitz G Syndrome: A rare genetic disorder characterized by defects along the midline of the body. The type and severity of symptoms can vary considerably. There are two subtypes of the disorder: one is inherited in a X-linked manner and the other is inherited in an autosomal dominant manner. Females with the X-linked form of the condition tend to have few symptoms and often only have wide set eyes.
• Opitz G/BBB Syndrome: A rare genetic disorder characterized by defects along the midline of the body. The type and severity of symptoms can vary considerably. There are two subtypes of the disorder: one is inherited in a X-linked manner and the other is inherited in an autosomal dominant manner. Females with the X-linked form of the condition tend to have few symptoms and often only have wide set eyes.
• Opitz G/BBB Syndrome, Type II: A rare genetic disorder characterized by defects along the midline of the body. The type and severity of symptoms can vary considerably. There are two subtypes of the disorder: Type I inherited in a X-linked manner and type II is inherited in an autosomal dominant manner.
• Opitz G/BBB Syndrome, X-linked: A rare genetic disorder characterized by defects along the midline of the body. The type and severity of symptoms can vary considerably. There are two subtypes of the disorder: type I is inherited in a X-linked manner and type II is inherited in an autosomal dominant manner. Females with type I tend to have few if any symptoms - often the only symptom is wide-set eyes.
• Opitz G/BBB Syndrome, type I: A rare genetic disorder characterized by defects along the midline of the body. The type and severity of symptoms can vary considerably. There are two subtypes of the disorder: type I is inherited in a X-linked manner and type II is inherited in an autosomal dominant manner.
• Opitz G/BBB syndrome, Autosomal dominant: A rare genetic disorder characterized by defects along the midline of the body. The type and severity of symptoms can vary considerably. There are two subtypes of the disorder: type I is inherited in a X-linked manner and type II is inherited in an autosomal dominant manner.
• Opitz syndrome , X-linked: A congenital disorder characterized by distinctive facial features, genital abnormalities, esophageal defect and difficulty swallowing. Males are more severely affected than females.
• Opium addiction: An uncontrollable desire to use opium on a regular basis. Opium may may be prescribed by a physician for the purpose of pain relief but patients may become physically dependent on the drug and continue to obsessively use it even after the condition it was prescribed for has resolved. In other cases, opium addiction results from the illicit use of the drug for recreational purposes. Frequent use leads to an increased tolerance to the drug so higher and higher doses are required to achieve the desired euphoric feeling.
• Opthalmo acromelic syndrome: A very rare syndrome characterized mainly by missing eyes and limb anomalies.
• Optic pathway glioma: A type of tumor that arises in the optic nerve which sends messages from the eye to the brain. These tumors tend to occur mainly in children under the age of 10. The tumor may affect the hormone center of the brain and hence can affect such things as growth and weight.
• Oral facial digital syndrome, type 4: A rare inherited disorder characterized by facial, digital and oral abnormalities. Type IV is differentiated from the other types by the presence of severe shinbone deformity.
• Ornithine Transcarbamylase Deficiency: A rare metabolic disorder where a deficiency of the enzyme ornithine transcarbamylase means that nitrogen isn't removed from the body and builds up in the blood in the form of ammonia.
• Ornithine transcarbamylase (OTC) Deficiency: A rare metabolic disorder where a deficiency of the enzyme ornithine transcarbamylase means that nitrogen isn't removed from the body and builds up in the blood in the form of ammonia.
• Ossification anomalies - psychomotor development delay: A rare syndrome characterized by poor mineralization of skull bones, reduced muscle tone, thin long bones and various other problems.
• Osteogenesis imperfecta: Weak bones ("brittle bone disease") and loose joints
• Osteogenesis imperfecta Type I: A rare genetic connective tissue disorder characterized by fragile bones, blue sclerae and hyperextensible joints.
• Osteogenesis imperfecta, type 1A: A rare genetic connective tissue disorder characterized by fragile bones and hyperextensible joints - a type of osteogenesis imperfecta I where the teeth are opalescent and blue sclerae may be absent.
• Osteogenesis imperfecta, type 1B: A rare genetic connective tissue disorder characterized by fragile bones and hyperextensible joints - a milder form of osteogenesis imperfecta I where the teeth are normal and blue sclerae may be absent.
• Osteogenesis imperfecta, type 3: A rare genetic connective tissue disorder characterized by progressive limb deformity and normal sclerae.
• Osteogenesis imperfecta, type 4: A rare genetic connective tissue disorder characterized by fragile bones and blue sclerae - a form of OI involving moderate osteoporosis and no joint hyperextensibility.
• Osteopetrosis lethal: A severe, lethal form of the brittle bone condition called osteopetrosis.
• Osteopetrosis, autosomal recessive 2: A rare disorder characterized primarily by increased bone density as old bone is not resorbed and replaced with new bone - is also known as marble bone disease. This form is relatively mild with survival possible for a couple of decades in some cases.
• Osteopetrosis, autosomal recessive 4: A rare disorder characterized primarily by increased bone density as old bone is not resorbed and replaced with new bone - is also known as marble bone disease. The malignant infantile form is the most severe form of this disorder and death usually occurs in the first decade of life.
• Osteoporosis: Bone mass loss (osteoporosis) as a symptom
• Oto-Palatal-digital syndrome: A very rare syndrome characterized a variety of abnormalities including skeletal anomalies, distinctive face and cleft palate. There are two types of the disorder (type 1 and 2) with type 2 being more severe.
• Oto-Palato-digital syndrome type 1: A rare genetic disorder characterized by deafness, cleft palate, broad fingers and toes and short nails.
• Oto-palato-digital syndrome, type 2: A rare genetic disorder characterized by head, face, mouth and bone abnormalities.
• Oxazepam - Teratogenic Agent: There is evidence to indicate that exposure to Oxazepam during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Oxprenolol - Teratogenic Agent: There is evidence to indicate that exposure to Oxprenolol during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Oxycontin addiction: Oxycontin is a commonly prescribed pain killer which is recognized as carrying a high risk of addiction. Initial use of the drug may be to control chronic pain but patients may find themselves increasingly dependent on the drug and unable to stop its use. Other cases of addiction may occur when people deliberately and illegally misuse Oxycontin as a recreational drug.
• PFIC: A rare inherited condition where bile is unable to drain from the liver where it builds up and causes progressive liver damage. End-stage liver disease usually occurs before adulthood. There are three different subtypes of the disorder, each with a different genetic origin of the defect.
• PHACE association: A very rare syndrome characterized mainly by a brain malformation (involving the posterior fossa), large facial hemangioma and eye, heart and artery anomalies.
• PIBIDS syndrome: A rare inherited skin disorder characterized by photosensitivity (P), red, dry, scaly skin (I - ichthyosis), brittle hair (B), impaired physical and mental development (I), decreased fertility (D) and short stature (S). It is the same as IBIDS syndrome but involves photosensitivity.
• Pachygyria: A condition which is characterized by the presence of thick convolutions of the cerebral cortex
• Pachygyria, frontotemporal: A recessively inherited disorder characterized by abnormal brain development (pachygyria), mental retardation and various other abnormalities.
• Paget disease juvenile type: A rare genetic bone disorder involving abnormal loss of bone mineralization and remineralization, broadened bone shafts and high levels of alkaline phosphatase in the blood. Some juvenile cases are relatively mild.
• Pain killer addiction: An uncontrollable desire to use pain-relieving medication on a regular basis. Pain killers are often prescribed for the treatment of sleeping problems but chronic use can lead to dependence on the drug. Frequent use leads to an increased tolerance to the drug so higher and higher doses are required to achieve the desired euphoric feeling.
• Pallister Killian Mosaic Syndrome: Pallister Killian Mosaic Syndrome is a very rare disorder genetic disorder involving abnormalities in chromosome 12. The severity of symptoms is variable and tends to include a wide range of defects and abnormalities.
• Pallister Mosaic Syndrome Tetrasomy 12p: A very rare disorder genetic disorder involving abnormalities in chromosome 12. The severity of symptoms is variable and tends to include a wide range of defects and abnormalities.
• Panhypopituitarism: A rare condition where all pituitary hormones are absent or reduced. The condition may be congenital or acquired through such things as pituitary tumors. The pituitary gland regulates the activity of other endocrine glands as well as controlling growth. Other endocrine glands include adrenal, parathyroid, thyroid, pancreas, ovaries and testes. Symptoms can vary greatly depending on the degree of deficiency of the various hormones.
• Paramethadione - Teratogenic Agent: There is evidence to indicate that exposure to Paramethadione during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Paraplegia - brachydactyly - cone-shaped epiphysis: A very rare syndrome characterized mainly by paraplegia, short fingers and bone abnormalities. The paraplegia progresses slowly.
• Partial 7p Monosomy: A rare chromosomal disorder where part of the short arm (p) of chromosome 7 is deleted resulting in various abnormalities which are determined by the size and location of the deleted portion.
• Partial agenesis of corpus callosum: A rare birth defect where part of the corpus callosum is absent. The corpus callosum is the area that connects the two main halves of the brain (cerebral hemispheres). Severity of symptoms is determined by how much of the structure is missing. Mild cases tend to involve headaches, seizures and speech problems which don't appear for years.
• Partington-Anderson syndrome: A very rare syndrome characterized mainly by retarded growth before and after birth, developmental delay, small head and distinctive facial appearance.
• Parvovirus B19 - Teratogenic Agent: There is strong evidence to indicate that the development of Parvovirus B19 during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the stage of pregnancy that the exposure occurred at.
• Pay-loo-ah-induced lead poisoning: Pay-loo-ah is a folk remedy used mainly by the Hmong people from Loas to treat fever and rash. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
• Pelizaeus-Merzbacher Disease: Rare brain myelin disorder.
• Pelizaeus-Merzbacher disease, recessive, acute infantile: A severe form of the degenerative brain disease involving deterioration of the brain white matter and resulting in impaired motor and mental functioning.
• Pena Shokeir syndrome, type 1: A rare congenital syndrome involving degeneration of the brain and spinal cord and characterized by facial, head, skeletal and muscular abnormalities. Reduced fetal activity causes many of the problems.
• Penbutolol - Teratogenic Agent: There is evidence to indicate that exposure to Penbutolol during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Penicillamine - Teratogenic Agent: There is evidence to indicate that exposure to Penicillamine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Pentamide - Teratogenic Agent: There is evidence to indicate that exposure to Pentamide during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Pentazocine - Teratogenic Agent: There is evidence to indicate that exposure to Pentazocine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Perinatal-lethal Gaucher disease: A disorder caused by a deficiency of an enzyme called glucocerebrosidase. The foetal form is one of several forms of Gaucher disease and is the rarest. The fetal form causes death before birth or soon after.
• Peroxisomal defects: A group of metabolic disorders caused by genetic anomalies resulting in dysfunctional peroxisomes. Peroxisomes are found in cells in the body and are involved in functions such as metabolizing certain fatty acids and producing bile acid. Examples of condition involving peroxisomal defects includes Zellweger syndrome and adrenoleukodystrophy. The range and severity of symptoms vary greatly depending on the particular condition involved.
• Persistent Truncus Arteriosus: A congenital heart defect that occurs during fetal development where the truncus arteriosis fails to separate into an aorta and pulmonary aorta before birth. This causes blood from both ventricles to mix.
• Pervasive developmental disorder: Group of developmental disorders often recognized before 3 years of age.
• Petty-Laxova-Wiedemann syndrome: A very rare syndrome characterized mainly by premature aging involving the face, skin and hair as well as other anomalies.
• Pfeiffer syndrome Type 3: A rare genetic disorder characterized by premature joining of certain skull bones during development which has an impact on the shape of the head and face. Features include craniofacial abnormalities, cardiovascular malformations and early death is common.
• Pfeiffer-Mayer syndrome: A very rare syndrome characterized mainly by mental retardation, colobomata and an extra thumb.
• Phenindione - Teratogenic Agent: There is evidence to indicate that exposure to Phenindione during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Phenobarbital - Teratogenic Agent: There is evidence to indicate that exposure to Phenobarbital during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Phenprocoumon - Teratogenic Agent: There is evidence to indicate that exposure to Phenprocoumon during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Phenylketonuria: A metabolic disorder where there is a deficiency of the enzyme phenylalanine hydroxylase which leads to a harmful buildup of the phenylalanine in the body. Normally the phenylalanine is converted into tyrosine. The severity of the symptoms can range from severe enough to cause mental retardation to mild enough not to require treatment. Severity is determined by the level of impairment of enzyme activity of phenylalanine hydroxylase.
• Phenytoin - Teratogenic Agent: There is evidence to indicate that exposure to Phenytoin during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Phocomelia syndrome: A rare condition involving a range severe birth defects that can occur genetically, spontaneously or due to use of certain drugs such as thalidomides during pregnancy.
• Pick's disease of the brain: A degenerative brain disease involving the frontal and temporal brain lobes resulting primarily in progressive dementia and loss of motor and language functions. It is characterized by the presence of proteins called Pick bodies in damaged nerve cells.
• Pili torti - developmental delay - neurological abnormalities: A very rare syndrome characterized mainly by developmental delay, twisted hair shafts and neurological symptoms.
• Pindolol - Teratogenic Agent: There is evidence to indicate that exposure to Pindolol during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Pitt-Hopkins syndrome: A very rare syndrome characterized mainly by mental retardation with periods of overbreathing and apnea.
• Pituitary cancer, childhood: Cancer (malignant) of the pituitary gland in children. The pituitary gland produces various hormones and some pituitary tumors (functioning tumors) can affect the secretion of one or more of these hormones resulting in a range of symptoms depending on the exact location of the tumor. Some pituitary tumors do not affect hormone production (nonfunctioning tumors).
• Pituitary tumors, adult: A benign or cancer tumor that develops in the tissue of the pituitary gland in adults. The pituitary gland produces various hormones and some pituitary tumors (functioning tumors) can affect the secretion of one or more of these hormones resulting in a range of symptoms depending on the exact location of the tumor. Some pituitary tumors do not affect hormone production (nonfunctioning tumors).
• Po Ying Tan-induced lead poisoning: Po Ying Tan is a folk remedy used mainly by Chinese people to treat minor childhood complaints. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
• Podophyllum - Teratogenic Agent: There is evidence to indicate that exposure to Podophyllum during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Pollitt syndrome: A rare condition characterized by brittle hair, mental and growth retardation as well as various other abnormalities. The hair is brittle because due to the reduced amount of sulfur in it and the formation of weak spots (nodes) along it which results in it breaking off easily.
• Polycystic kidney disease, infantile type: Severe form of polycystic kidney disease which is a genetic kidney disease. Symptoms develop very early in life and may even be present during the fetal stage.
• Polydactyly cleft lip palate psychomotor retardation: A very rare syndrome described in a small inbred group of families and characterized by bifid toes, extra big fingers, cleft lip or palate and psychomotor retardation. There were various other symptoms that were variably present.
• Polyendocrine deficiency syndrome type 1: Multi-endocrine syndrome commonly affecting children
• Polyendocrine deficiency syndrome type 2: Multi-endocrine syndrome usually affecting young adults.
• Polymicrogyria - turricephaly - hypogenitalism: A very rare syndrome characterized mainly by abnormal brain structure (polymicrogyria), cone shaped head and underdeveloped genitalia.
• Polyneuropathy - Ophthalmoplegia - Leukoencehalopathy - Intestinal Pseudo-Obstruction: A rare genetic disorder which affects a number of body systems and manifests results in symptoms such as droopy eyelids, progressive eye muscle weakness, gastrointestinal dysmotility, brain disease, thin body, peripheral neuropathy and muscle disease.
• Polythiazide - Teratogenic Agent: There is evidence to indicate that exposure to Polythiazide during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Porencephaly: A central nervous system disorder involving cysts in the brain cortex caused by stroke, infection or genetic anomaly.
• Potassium Iodide - Teratogenic Agent: There is evidence to indicate that exposure to Potassium Iodide during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Potocki-Shaffer syndrome: A very rare syndrome caused by the absence of a portion of chromosome 11p and characterized mainly by bone growths, enlarged fontanel and parietal foramina.
• Povidone-Iodine - Teratogenic Agent: There is evidence to indicate that exposure to Povidone-Iodine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Powell-Chandra-Saal syndrome: A very rare syndrome characterized mainly by webbed joints and heart, vertebral, ear and radial defects.
• Prader-Willi syndrome: A rare genetic disorder characterized by reduced muscle tone, obesity and small hands and feet.
• Prednisolone - Teratogenic Agent: There is evidence to indicate that exposure to Prednisolone during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Prednisone - Teratogenic Agent: There is evidence to indicate that exposure to Prednisone during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Premature breast development: Breast development occurring before the expected age.
• Premature chromosome condensation with microcephaly and mental retardation: A genetic disorder characterized mainly by a small head and mental retardation.
• Presbyopia: Age-related far-sightedness often requiring glasses
• Prescribed medication addiction: An uncontrollable desire to use prescribed medication in a manner or frequency not prescribed. Drugs such as painkillers are prescribed to treat such things as pain but patients may become physically dependent on the drug and continue to obsessively use it even after the condition it was prescribed for has resolved. Frequent use leads to an increased tolerance to the drug so higher and higher doses are required to achieve the desired euphoric feeling.
• Primary Herpes Infection - Teratogenic Agent: There is evidence to indicate that the use of primary Herpes Infection during pregnancy may cause a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Primidone - Teratogenic Agent: There is evidence to indicate that exposure to Primidone during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Procarbazine - Teratogenic Agent: There is evidence to indicate that exposure to Procarbazine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Procrit - Teratogenic Agent: There is evidence to indicate that exposure to Procrit (used to treat some forms of anemia) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Progressive spinal muscular atrophy: A group of inherited motor neuron diseases involving progressive muscle weakness and wasting due to degeneration of motor neurons in the spinal cord. The severity of symptoms and survival varies depending on the particular form of the condition. Death can occur as early as infancy whereas some forms allow survival into adulthood.
• Propanolol - Teratogenic Agent: There is evidence to indicate that exposure to Propanolol during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Proximal spinal muscular atrophy: A rare group of muscle disorders which mainly affects the muscles closest to the trunk of the body. Muscles become progressively weak and wasted due to damage to motor neurons in the spinal cord and brainstem.
• Proximal spinal muscular atrophy, type 1: A type of spinal muscular atrophy which is a progressive genetic motor neuron disease involving the nerves and muscles. The condition is relatively rare and is characterized by muscle weakness which leads to structural deformities and loss or reduced capability of normal body movements. SMA type I is the most debilitating form as muscular weakness is evident at birth and diagnosis usually occurs within the first three months.
• Pseudoachondroplasia: A rare genetic disorder characterized by bone growth and development abnormalities.
• Pseudoachondroplastic dysplasia 2: A very rare syndrome characterized mainly by retarded growth, short limbs and other skeletal deformities.
• Psychiatric disorders associated Celiac Disease: Patients with Psychiatric disorders are more susceptible to developing celiac disease than the average population. Celiac disease is an autoimmune disorder characterized by intolerance to gluten by the small intestine. The type and severity of symptoms varies amongst people - some people have severe gastrointestinal symptoms from infancy whereas other have no symptoms other than fatigue or anemia during adulthood.
• Pterygium syndrome, X-linked: A rare disorder involving skin, bone and muscle abnormalities with webbing in parts of the body such as the neck, elbows and back of legs.
• Ptosis strabismus diastasis: A rare genetic disorder characterized by drooping eyelids, strabismus and abdominal muscle defects.
• Pulmonary atresia with ventricular septal defect: A congenital heart defect where the pulmonary artery is closed off so that blood is unable to flow out to the lungs via the pulmonary artery. An abnormal opening between the two sides of the heart also allow blood to flow between the two heart chambers. The severity of symptoms depends on the degree of abnormality. Symptoms may be evident at birth or later.
• Pure red cell aplasia, congenital: A rare genetic condition where the bone marrow is unable to make sufficient red blood cells which leads low levels of red blood cells. There are eight subtypes of the condition which differ in the location of the genetic defect and the incidence of additional symptoms such as malformations. The severity of symptoms is variable but most cases are serious.
• Puretic syndrome: A rare genetic condition characterized by skin tumors and enlarged gums as well as osteopenia and joint contractures. The condition is caused by the accumulation of hyaline in the skin and other tissues.
• Pyle disease: A rare genetic disorder characterized by numerous bone abnormalities as well as loss of vision and hearing.
• Pyridoxamine 5-prime-phosphate oxidase deficiency: A metabolic disorder involving a deficiency of an enzyme called 5-prime-phosphate oxidase. Symptoms start soon after birth and involves seizures and other anomalies.
• Pyridoxine deficiency: Deficiency of vitamin B6 which has many uses in the body.
• Pyruvate carboxylase deficiency, Group A: A rare inherited disorder characterized by a deficiency of pyruvate carboxylase which leads to accumulation of lactic acid and other compounds which can have a toxic effect on the nervous system and body organs. Type A has moderately severe symptoms that usually start during infancy.
• Pyruvate dehydrogenase phosphatase deficiency: A genetic disease involving an enzyme deficiency which causes exercise intolerance and mild developmental delay. Symptoms are variable.
• Quattrin mcpherson syndrome: A rare syndrome characterized mainly by a large mouth, developmental delay and an unusual facial appearance.
• Quinapril - Teratogenic Agent: There is evidence to indicate that exposure to Quinapril during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Quinethazone - Teratogenic Agent: There is evidence to indicate that exposure to Quinethazone during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Quinidine - Teratogenic Agent: There is evidence to indicate that exposure to Quinidine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Raine syndrome: A very rare syndrome characterized mainly by increased bone density which ultimately results in death.
• Rajab-Spranger syndrome: A rare syndrome characterized mainly by a skin fat disorder, mental retardation and deafnes.
• Ramipril - Teratogenic Agent: There is evidence to indicate that exposure to Ramipril during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Ramon Syndrome: A rare genetic condition characterized by cherubism, enlarged gums, epilepsy, mental deficiency and excessive body hair (hypertrichosis).
• Reading symptoms: Problems with reading ability
• Reardon-Wilson-Cavanagh syndrome: A rare genetic syndrome characterized by progressive ataxia, deafness and mental retardation.
• Refractory Celiac Disease: Refractory Celiac Disease is celiac disease that fails to respond to treatment which involves a gluten-free diet. Celiac disease is an autoimmune disorder characterized by intolerance to gluten by the small intestine. The condition is quite uncommon and often the resulting poor absorption of nutrients from the intestines leads to a poor prognosis.
• Renal dysplasia - limb defects syndrome: A very rare syndrome characterized mainly by abnormal kidney development and various arm bone defects.
• Renal osteodystrophy: Lack of bone mineralization due to kidney disease.
• Renal tubular acidosis, distal, autosomal recessive: A rare kidney disorder characterized mainly by increased urine alkalinity and high blood acidity due to abnormal kidney functioning. Hearing loss may occur later in life.
• Renal tubular transport disorders, inborn: Genetic defects in the transporters and channels along the kidney tubules that help to regulate body fluids as well as defects in the receptors and enzymes involved in the process. Examples of such disorders include nephrogenic diabetes insipidus and hereditary renal hypouricemia. Symptoms are determined by the exact nature of the disorder.
• Retinitis pigmentosa - mental retardation - deafness: A very rare syndrome characterized mainly by progressive retinal damage, mental retardation and deafness.
• Retinopathy - anaemia- CNS anomalies: A very rare syndrome characterized mainly by disease of the eye retinas, anemia and central nervous system anomalies.
• Retinoschisis: A rare inherited or acquired condition where the retina separates into two layers resulting in progressive vision loss.
• Retinoschisis, Juvenile, X-Linked: An inherited eye condition where degenerative changes in the eye causes the retina to split. The severity and age of onset of symptoms can vary.
• Retinoschisis, X-linked: An inherited eye condition where degenerative changes in the eye causes the retina to split. The severity and age of onset of symptoms can vary.
• Retinoschisis, juvenile: An inherited eye condition where degenerative changes in the eye causes the retina to split. The severity and age of onset of symptoms can vary.
• Rett's syndrome: Autism-like behavioral syndrome in infant girls
• Revesz Debuse syndrome: A very rare syndrome characterized mainly by disease of the eye retinas, anemia and central nervous system anomalies.
• Revesz Syndrome: A very rare syndrome characterized mainly by disease of the eye retinas, anemia and central nervous system anomalies.
• Reynolds-Neri-Hermann syndrome: A very rare syndrome characterized mainly by heart defects, large head, developmental problems and facial and skin anomalies.
• Riboflavin deficiency: Dietary deficiency of riboflavin (vitamin B2)
• Richieri-Costa-Orquizas syndrome: A very rare syndrome characterized by a cleft palate, genital anomalies, retarded growth, heart defect and a hand abnormality.
• Rickets: A condition that affects the bones due to vitamin D deficiency
• Riddle syndrome: A rare syndrome characterized by sensitivity to ionizing radiation, immunodeficiency, learning difficulties and unusual facial appearance.
• Rieger Syndrome: A rare genetic disorder characterized by underdeveloped or absent teeth and craniofacial and eye abnormalities.
• Rieger anomaly - partial lipodystrophy: A very rare disorder characterized by short stature, low birth weight and loss of skin fat. SHORT is an acronym for short stature, hyperextensible joints and/or hernia, ocular depression, Reiger anomaly and teething delay. Additional symptoms are also variably present.
• Right parietal lobe syndrome related Alzheimer's disease: Right parietal lobe syndrome related Alzheimer's disease is a variant of Alzheimer's disease that involves abnormalities in a particular part of the brain. It is characterized by Alzheimer's symptoms as well as problems with such things as construction (making things) and drawing as well as denial of their disabilities. Alzheimer's disease is a progressive disorder involving degeneration of the brain. The disease mainly affects brain functions involving thinking, memory, personality and behaviour.
• Rivatril - Teratogenic Agent: There is evidence to indicate that exposure to Rivatril during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Roberts-SC Phocomelia: A rare genetic disorder characterized by limb deformities, midfacial defects and severe growth deficiency.
• Robinow-Unger syndrome: A rare disorder character where a part of the brain (cerebellum) is underdeveloped and abnormally increased bone density (endosteal sclerosis).
• Robinow-like syndrome: A very rare syndrome characterized mainly by
• Rocky Mountain spotted fever: A bacterial disease caused by Rickettsia rickettsii and transmitted by ticks. The condition causes fever and a characteristic rash and may be fatal in severe or untreated cases.
• Roifman syndrome: A rare syndrome characterized by abnormal bone growth, immune deficiency and an eye disorder.
• Rowley-Rosenberg syndrome: A rare disorder characterized by very short stature, cor-pulmonale (failure of the right side of the heart) and excess amino acids in the urine due to kidney dysfunction.
• Rubella virus antenatal infection: A rare disorder caused by exposure of the fetus to maternal rubella and resulting in a range of abnormalities and fetal death is also possible.
• Rubinstein-Taybi Syndrome: A rare congenital disorder characterized by very small stature, broad thumbs and toes, slanted palpebral fissures and hypoplastic maxilla.
• Rueda-induced lead poisoning: Rueda is a lead-containing folk remedy used mainly by Chinese people to treat infant colic or to calm young children. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
• SBCAD deficiency: A very rare genetic disorder where an enzyme deficiency prevents the break down of certain proteins into energy and results in a harmful accumulation of acids in the blood and body tissues. More specifically, there is a deficiency of an enzyme (2-methylbutyryl-coenzyme A dehydrogenase) needed to convert the amino acid isoleucine into energy. 2-methylbutyrylglycine levels build up in the body and may cause damage. Symptoms vary according to the degree of enzyme deficiency - can range from asymptomatic to life-threatening.
• SCHAD Deficiency - formerly: A rare inherited form of biochemical disorder characterized by the deficiency of a particular enzyme (3-Hydroxyacyl-CoA Dehydrogenase). The enzyme deficiency only affects certain body tissues, in particular the skeletal muscles. The lack of enzyme activity prevents some fats being converted into energy. Symptoms tend to be exacerbated during fasting as during fasting, the body tries to rely more heavily on fats for energy. Fatty acids that are not completely metabolized due to the enzyme deficiency may build up in various organs and cause serious complications.
• SCID: Major failure of the immune system, usually genetic.
• SHORT Syndrome: A very rare disorder characterized by short stature, low birth weight and loss of skin fat. SHORT is an acronym for short stature, hyperextensible joints and/or hernia, ocular depression, Reiger anomaly and teething delay.
• Saethre-Chotzen Syndrome: A rare genetic disorder characterized by premature joining of certain skull bones during development which has an impact on the shape of the head and face. Features include brachycephaly, ear deformities as well as craniofacial, finger and bone abnormalities.
• Saethre-Chotzen syndrome, chromosome 7 p15.3p21.3: A rare genetic disorder characterized by finger anomalies and premature joining of certain skull bones during development which has an impact on the shape of the head and face. There appears to be considerably variability of symptoms and clinical features of the disorder depending on the exact size and location of the portion of chromosomal material deleted. In this particular form, the chromosomal material deleted is located on chromosome 7 p15.3p21.3.
• Saethre-Chotzen syndrome, chromosome 7 p21.1p21.3: A rare genetic disorder characterized by finger anomalies and premature joining of certain skull bones during development which has an impact on the shape of the head and face. There appears to be considerably variability of symptoms and clinical features of the disorder depending on the exact size and location of the portion of chromosomal material deleted. In this particular form, the chromosomal material deleted is located on chromosome 7 p21.1p21.3.
• Saguenay-Lac Saint Jean - COX deficiency: A rare, progressive, inherited metabolic disorder where a deficiency of the enzyme cytochrome C oxidase affects skeletal muscles, connective tissue, brain and liver.
• Sanfilippo syndrome type A: A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans). This occurs due to there being not enough of the enzyme called heparin sulfatase which is needed to break down the mucopolysacharides. The mucopolysaccharides are then deposited in various tissues.
• Sanfilippo syndrome type B: A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) due to deficiency of an enzyme called N-acetyl-alpha-D-glucosaminidase. Mucopolysaccharide levels build up and are then deposited in various tissues.
• Santrinj-induced lead poisoning: Santrinj is a paint primer but is also used as a folk remedy mainly by Saudi Arabian people to treat teething and gum boils. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
• Saoot-induced lead poisoning: Saoot is a folk remedy used mainly by Middle Eastern people to treat digestive eye injuries, teething and to manage the umbilical stump in newborns. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
• Sarrouy disease: A disease characterized mainly by anemia, poor growth and enlarged liver and spleen. The disease usually ends with death.
• Say syndrome: A rare inherited syndrome characterized by a variety of abnormalities including transient low blood gammaglobulin levels.
• Say-Barber-Miller syndrome: A very rare syndrome characterized mainly by immune system problems and a small head.
• Say-Meyer syndrome: A very rare syndrome characterized mainly by short stature, developmental delay and trigonocephaly (premature fusion of skull bones giving the forehead a triangular shape).
• Schimke, X-linked, mental retardation syndrome: A very rare syndrome characterized by mental retardation, abnormal involuntary movements and retarded growth.
• Schindler disease, type 3: Schindler disease is a rare congenital metabolic disorder involving a deficiency of a particular enzyme (alpha-N-acetylgalactosaminidase) which results in a buildup of glycoproteins in the body. The condition originates from a genetic mutation and is an inherited disorder. There are three main types of this condition, each with varying severity. Type 3 is an intermediate form and is between type 1 and 2 with respect to severity.
• Schinzel Syndrome: A very rare inherited disorder that involves the arm bones and the sweat and/or mammary glands. The type and severity of symptoms is variable.
• Schizencephaly: A very rare disorder where the brain fails to develop normally and slits or clefts form in the brain. They type and severity of symptoms is determined by the degree of abnormality.
• School problems: Difficulty with learning or schooling as a symptom.
• Scott syndrome: A very rare inherited syndrome characterized by head and digital abnormalities as well as mental retardation.
• Seckel syndrome 1: Seckel syndrome is a rare inherited disorder mainly involving retarded growth, mental retardation, small head and a facial appearance resembling a bird. It is often referred to as bird-headed dwarfism. There are three subtypes of the disorder. Additional variable symptoms may also occur.
• Seckel syndrome 2: Seckel syndrome is a rare inherited disorder mainly involving retarded growth, mental retardation, small head and a facial appearance resembling a bird. It is often referred to as bird-headed dwarfism. There are three subtypes of the disorder. Type 2 tends to have less severe motor and mental retardation and the head is not small. Type 2 also involves at least one café au lait spot. Additional variable symptoms may also occur.
• Seckel syndrome 4: A rare, recessively inherited disorder involving retarded growth, small head, mental retardation and a characteristic bird-head facial appearance.
• Seckel-like syndrome, Majoor-Krakauer type: A very rare syndrome characterized by numerous abnormalities including poor fetal growth, reduced amniotic fluid and heart, brain spleen and kidney anomalies.
• Seckle syndrome: A rare genetic disorder characterized by short stature, microcephaly and a prominent nose.
• Secobarbital - Teratogenic Agent: There is evidence to indicate that exposure to Secobarbital during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Senior-Loken Syndrome: A rare inherited disorder characterized by kidney dysfunction and progressive eye disease.
• Senior-Loken syndrome 1: A rare inherited disorder characterized by kidney dysfunction and progressive eye disease. Type 1 is caused by a chromosomal defect on chromosome 2q13. End stage kidney disease usually occurs early in the second decade.
• Senior-Loken syndrome 3: A rare inherited disorder characterized by kidney dysfunction and progressive eye disease. Type 3 is caused by a chromosomal defect on chromosome 3q22. This form generally has an early onset.
• Senior-Loken syndrome 4: A rare inherited disorder characterized by kidney dysfunction and progressive eye disease. Type 4 is caused by a chromosomal defect on chromosome 1p36.
• Senior-Loken syndrome 5: A rare inherited disorder characterized by kidney dysfunction and progressive eye disease. Type 5 is caused by a chromosomal defect on chromosome 3q21.1. This form generally has a later onset.
• Senior-Loken syndrome 6: A rare inherited disorder characterized by kidney dysfunction and progressive eye disease. Type 6 is caused by a chromosomal defect on chromosome 12q21.3. End stage kidney disease usually occurs early in the second decade and vision impairment occurs by 3 years of age.
• Septo-Optic Dysplasia: A rare birth defect characterized by impaired vision and pituitary deficiency.
• Septooptic dysplasia - digital anomalies: A very rare syndrome characterized mainly by finger and toe abnormalities as well as abnormal development of the optic nerve and pituitary gland. Antenatal exposure to sedatives may be a factor in the cause of the disorder.
• Serine deficiency: A metabolic disorder caused by a deficiency of serine which results in various abnormalities.
• Short Chain Acyl CoA Dehydrogenase Deficiency (SCAD): A rare disorder where the body lacks enzymes needed to convert some fats (short-chain fatty acids) into energy. Symptoms are exacerbated by fasting or acute illness. The severity of symptoms is variable with some patients remaining virtually asymptomatic their whole life while other suffer symptoms from infancy.
• Short stature - pituitary and cerebellar defects - small sella turcica: A rare syndrome characterized mainly by short stature and brain and pituitary gland defects.
• Short stature locking fingers: A rare syndrome characterized by short stature and episodes of locked finger joints.
• Short-Chain Acyl-CoA Dehydrogenase Deficiency: A rare disorder where the body lacks enzymes needed to convert some fats (short-chain fatty acids) into energy.
• Shprintzen omphalocele syndrome: A rare syndrome characterized mainly by abnormal development of the pharynx and larynx which can result in a narrowed airway. Protrusion of intestines through the belly button also occurs. The voice is high pitched and spinal curvature and learning problems are other common symptoms.
• Shprintzen syndorme: An inherited syndrome of cardiac defects and craniofacial anomalies and various other abnormalities.
• Shprintzen-Golberg craniosynostosis: A very rare syndrome characterized by premature fusion of skull bones and a Marfanoid appearance, skeletal anomalies and learning problems.
• Sialuria, Finnish type: A rare inherited biochemical disorder characterized by the accumulation of sialic acid in the tissues and excretion of sialic acid in the urine. This condition is an adult form of sialuria.
• Sickle cell anemia: Sickle cell anemia is an inherited blood disorder characterized by red blood cells which are crescent-shaped rather than the normal doughnut shape. These abnormally shaped red blood cells are unable to function normally and tend to undergo premature destruction which leads to anemia. If the genetic defect which causes the condition is inherited from both parents the condition can be quite severe whereas if it is inherited from only one parent, often there are no symptoms. The abnormally shaped red blood cells can cause problems when they clump together and block blood vessels.
• Simpson-Golabi-Behmel syndrome, type 2: A rare genetic disorder characterized by hydrops fetalis and various other severe abnormalities. The condition usually results in death within two months of birth.
• Simvastatin - Teratogenic Agent: There is evidence to indicate that exposure to Simvastatin during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Singleton-Merten Syndrome: A very rare disorder involving calcium abnormalities which affect the teeth, bones and blood vessels.
• Situs inversus totalis with cystic dysplasia of kidneys and pancreas: A rare syndrome where the position of the internal organs of the chest and abdomen is transposed. In addition there are kidney and pancreatic abnormalities.
• Slavotinek hurst syndrome: A very rare inherited syndrome characterized mainly by cataracts, short stature, learning difficulties, skeletal abnormalities and a motor system disorder.
• Slavotinek-Pike-Mills-Hurst syndrome: A very rare inherited syndrome characterized mainly by cataracts, short stature, learning difficulties, skeletal abnormalities and a motor system disorder.
• Sleep apnea: A condition which is characterized by transient attacks of apnea that usually occur during ones sleep
• Sleeping pill addiction: An uncontrollable desire to use sleeping pills on a regular basis. Sleeping pills are often prescribed for the treatment of sleeping problems but chronic use can lead to dependence on the drug. Frequent use leads to an increased tolerance to the drug so higher and higher doses are required to achieve the desired euphoric feeling.
• Smelter Emissions - Teratogenic Agent: There is strong evidence to indicate that smelter emissions during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Smith-Lemli-Opitz syndrome, type 2: A rare birth disorder where an enzyme deficiency (7-dehydrocholesterol reductase) prevents cholesterol being metabolized properly. The condition causes a variety of physical abnormalities. Type II is a more severe form of the condition.
• Social problems: Difficulty relating to other people
• Social withdrawal: When an individual withdraws from normal social interactions
• Sodium Iodide - Teratogenic Agent: There is evidence to indicate that exposure to Sodium Iodide during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Sotalol - Teratogenic Agent: There is evidence to indicate that exposure to Sotalol during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Soto's Syndrome: A rare hereditary disorder characterized by excessive growth during the first few years of life as well as various other mental and physical anomalies.
• Spastic paraplegia 16, X-linked: A rare condition characterized by spasticity and weakness of the arms and legs, mental retardation, impaired vision and poor bowel and bladder control. In most cases, sufferers never gain the ability to walk.
• Spastic paraplegia 32, autosomal recessive: A rare syndrome characterized mainly by progressive stiffness and increased reflexes in the leg muscles.
• Spastic paraplegia 9, autosomal dominant: A rare disorder characterized by muscle wasting and weakness mainly in the legs, short stature, skeletal abnormalities and cataracts.
• Spina bifida: A congenital condition which is characterized by the abnormal closure of the vertebral arch
• Spinal Muscular Atrophy type I: Type of SMA, a genetic motor neuron disease affecting nerves and muscles.
• Spinocerebellar ataxia, X-linked, 3: A rare neurological disorder involving mainly ataxia and deafness which starts during infancy and progresses quite rapidly to result in childhood death.
• Spinocerebellar ataxia, X-linked, 5: A rare, X-linked neurological disorder which is not progressive and mainly involves ataxia, nystagmus and dysarthria.
• Spinocerebellar ataxia, autosomal recessive 4: A rare neurological disorder caused by a genetic defect (chromosome 1p36, recessive) and resulting in ataxia and eye movement problems.
• Spinocerebellar ataxia, autosomal recessive 7: A rare, recessively inherited neurological disorder caused by abnormalities in the cerebellum and spinal cord. The severity of the disorder is variable.
• Split hand split foot mandibular hypoplasia: A very rare condition characterized by a split hand or foot deformity, kidney abnormalities and underdeveloped lower jaw.
• Spondylocostal dysostosis, Dandy-Walker: A rare syndrome characterized mainly by rib and spine abnormalities as well as the Dandy-Walker anomaly (brain cyst).
• Spondylocostal dysostosis, autosomal recessive: A rare, recessively inherited syndrome characterized mainly by rib and spine abnormalities. The recessive form is more severe than the dominantly inherited form.
• Spondyloepimetaphyseal dysplasia, hypotrichosis: An inherited bone growth disorder characterized by short stature, bone abnormalities and vision problems. An additional feature of this condition is the reduced amount of hair (hypotrichosis). The bone abnormalities are due to a genetic mutation that affects the development of bone and connective tissue.
• Spondyloepiphyseal dysplasia - nephrotic syndrome: A very rare syndrome characterized by skeletal and immunity abnormalities. The immune defect leads to progressive kidney dysfunction which can ultimately cause death during the first decade.
• Spondylometaphyseal dysplasia, Kozlowski type: A rare genetic disorder characterized by reduced calcification of the spine and pelvis resulting in short stature.
• Steinfeld syndrome: A very rare syndrome characterized by kidney abnormalities, single brain lobe and a heart defect.
• Stevenson-Carey syndrome: A rare syndrome involving various congenital abnormalities and mental retardation.
• Stimmler syndrome: A rare disorder characterized by dwarfism, diabetes, small head and high levels of alanine in the urine.
• Stroke symptoms: Brain-related symptoms of bleeding or blockage.
• Strudwick syndrome: An inherited bone growth disorder characterized by short stature, bone abnormalities and vision problems. The bone abnormalities are due to a genetic mutation that affects the development of bone and connective tissue.
• Sturge-Weber Syndrome: A rare genetic disorder characterized by excessive blood vessel growth, calcium accumulation inside the brain and seizures.
• Subcortical laminar heterotopia: A rare inherited disorder where a part of the brain tissue is misplaced during development. More specifically, the abnormal tissue is found in the subcortical part of the brain.
• Subependymal nodular heterotopia: A rare inherited disorder where a part of the brain tissue is misplaced during development. More specifically, nodules of the abnormal tissue is found in the subependymal part of the brain.
• Sucrase-isomaltase malabsorption, congenital: A rare disorder where a congenital deficiency of an enzyme (sucrase-isomaltase) prevents the absorption of sucrose and isomaltose consumed in the diet.
• Sucrase-isomaltose malabsorption, congenital: A rare disorder where a congenital deficiency of an enzyme (sucrase-isomaltase) prevents the absorption of sucrose and isomaltose consumed in the diet.
• Sulfadoxine-Pyrimethamine - Teratogenic Agent: There is evidence to indicate that exposure to Sulfadoxine-Pyrimethamine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Sulfatidosis juvenile, Austin type: A very rare metabolic disorder where all the sulfatase enzymes are impaired resulting in a variety of physical and developmental abnormalities.
• Surma-induced lead poisoning: Surma is a black powder used as a cosmetic as well as a folk remedy by Middle East people to treat teething. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
• Susceptibility to Celiac Disease 1: Susceptibility to celiac disease 1 is a term allocated to a genetic defect on a particular chromosome (chromosome 6p21.3) which makes a patient more susceptible to developing celiac disease. However, it is important to note that having the genetic anomaly does not mean a person will definitely develop celiac disease. Celiac disease is an autoimmune disorder characterized by intolerance to gluten by the small intestine. The type and severity of symptoms varies amongst people - some people have severe gastrointestinal symptoms from infancy whereas other have no symptoms other than fatigue or anemia during adulthood.
• Susceptibility to Celiac Disease 10: Susceptibility to celiac disease 10 is a term allocated to a genetic defect on a particular chromosome (chromosome 3q25-q26) which makes a patient more susceptible to developing celiac disease. However, it is important to note that having the genetic anomaly does not mean a person will definitely develop celiac disease. Celiac disease is an autoimmune disorder characterized by intolerance to gluten by the small intestine. The type and severity of symptoms varies amongst people - some people have severe gastrointestinal symptoms from infancy whereas other have no symptoms other than fatigue or anemia during adulthood.
• Susceptibility to Celiac Disease 11: Susceptibility to celiac disease 11 is a term allocated to a genetic defect on a particular chromosome (chromosome 3q28) which makes a patient more susceptible to developing celiac disease. However, it is important to note that having the genetic anomaly does not mean a person will definitely develop celiac disease. Celiac disease is an autoimmune disorder characterized by intolerance to gluten by the small intestine. The type and severity of symptoms varies amongst people - some people have severe gastrointestinal symptoms from infancy whereas other have no symptoms other than fatigue or anemia during adulthood.
• Susceptibility to Celiac Disease 12: Susceptibility to celiac disease 12 is a term allocated to a genetic defect on a particular chromosome (chromosome 6q25) which makes a patient more susceptible to developing celiac disease. However, it is important to note that having the genetic anomaly does not mean a person will definitely develop celiac disease. Celiac disease is an autoimmune disorder characterized by intolerance to gluten by the small intestine. The type and severity of symptoms varies amongst people - some people have severe gastrointestinal symptoms from infancy whereas other have no symptoms other than fatigue or anemia during adulthood.
• Susceptibility to Celiac Disease 13: Susceptibility to celiac disease 13 is a term allocated to a genetic defect on a particular chromosome (chromosome 12q24) which makes a patient more susceptible to developing celiac disease. However, it is important to note that having the genetic anomaly does not mean a person will definitely develop celiac disease. Celiac disease is an autoimmune disorder characterized by intolerance to gluten by the small intestine. The type and severity of symptoms varies amongst people - some people have severe gastrointestinal symptoms from infancy whereas other have no symptoms other than fatigue or anemia during adulthood.
• Susceptibility to Celiac Disease 2: Susceptibility to celiac disease 2 is a term allocated to a genetic defect on a particular chromosome (chromosome 5q31-q33) which makes a patient more susceptible to developing celiac disease. However, it is important to note that having the genetic anomaly does not mean a person will definitely develop celiac disease. Celiac disease is an autoimmune disorder characterized by intolerance to gluten by the small intestine. The type and severity of symptoms varies amongst people - some people have severe gastrointestinal symptoms from infancy whereas other have no symptoms other than fatigue or anemia during adulthood.
• Susceptibility to Celiac Disease 3: Susceptibility to celiac disease 3 is a term allocated to a genetic defect on a particular chromosome (chromosome 2q33) which makes a patient more susceptible to developing celiac disease. However, it is important to note that having the genetic anomaly does not mean a person will definitely develop celiac disease. Celiac disease is an autoimmune disorder characterized by intolerance to gluten by the small intestine. The type and severity of symptoms varies amongst people - some people have severe gastrointestinal symptoms from infancy whereas other have no symptoms other than fatigue or anemia during adulthood.
• Susceptibility to Celiac Disease 4: Susceptibility to celiac disease 4 is a term allocated to a genetic defect on a particular chromosome (chromosome 19p13.1) which makes a patient more susceptible to developing celiac disease. However, it is important to note that having the genetic anomaly does not mean a person will definitely develop celiac disease. Celiac disease is an autoimmune disorder characterized by intolerance to gluten by the small intestine. The type and severity of symptoms varies amongst people - some people have severe gastrointestinal symptoms from infancy whereas other have no symptoms other than fatigue or anemia during adulthood.
• Susceptibility to Celiac Disease 5: Susceptibility to celiac disease 5 is a term allocated to a genetic defect on a particular chromosome (chromosome 15q11-q13) which makes a patient more susceptible to developing celiac disease. However, it is important to note that having the genetic anomaly does not mean a person will definitely develop celiac disease. Celiac disease is an autoimmune disorder characterized by intolerance to gluten by the small intestine. The type and severity of symptoms varies amongst people - some people have severe gastrointestinal symptoms from infancy whereas other have no symptoms other than fatigue or anemia during adulthood.
• Susceptibility to Celiac Disease 6: Susceptibility to celiac disease 6 is a term allocated to a genetic defect on a particular chromosome (chromosome 4q27) which makes a patient more susceptible to developing celiac disease. However, it is important to note that having the genetic anomaly does not mean a person will definitely develop celiac disease. Celiac disease is an autoimmune disorder characterized by intolerance to gluten by the small intestine. The type and severity of symptoms varies amongst people - some people have severe gastrointestinal symptoms from infancy whereas other have no symptoms other than fatigue or anemia during adulthood.
• Susceptibility to Celiac Disease 7: Susceptibility to celiac disease 7 is a term allocated to a genetic defect on a particular chromosome (chromosome 1q133) which makes a patient more susceptible to developing celiac disease. However, it is important to note that having the genetic anomaly does not mean a person will definitely develop celiac disease. Celiac disease is an autoimmune disorder characterized by intolerance to gluten by the small intestine. The type and severity of symptoms varies amongst people - some people have severe gastrointestinal symptoms from infancy whereas other have no symptoms other than fatigue or anemia during adulthood.
• Susceptibility to Celiac Disease 8: Susceptibility to celiac disease 8 is a term allocated to a genetic defect on a particular chromosome (chromosome 2q11-q12) which makes a patient more susceptible to developing celiac disease. However, it is important to note that having the genetic anomaly does not mean a person will definitely develop celiac disease. Celiac disease is an autoimmune disorder characterized by intolerance to gluten by the small intestine. The type and severity of symptoms varies amongst people - some people have severe gastrointestinal symptoms from infancy whereas other have no symptoms other than fatigue or anemia during adulthood.
• Susceptibility to Celiac Disease 9: Susceptibility to celiac disease 9 is a term allocated to a genetic defect on a particular chromosome (chromosome 3p21) which makes a patient more susceptible to developing celiac disease. However, it is important to note that having the genetic anomaly does not mean a person will definitely develop celiac disease. Celiac disease is an autoimmune disorder characterized by intolerance to gluten by the small intestine. The type and severity of symptoms varies amongst people - some people have severe gastrointestinal symptoms from infancy whereas other have no symptoms other than fatigue or anemia during adulthood.
• Swollen bone: Enlarged, swollen, or misshapen bones
• Syndactyly type 1 - microcephaly - mental retardation: A very rare disorder involving finger and toe abnormalities, a small head, characteristic face and physical and mental retardation. The number of digits involved and extent of webbing between digits is variable as are many of the other features.
• Tacrolimus - Teratogenic Agent: There is evidence to indicate that exposure to Tacrolimus during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Telencephalic leukoencephalopathy: Neurological disease of the brain where the protective sheaths covering the nerves in the brains are destroyed or fail to develop properly.
• Telfer-Sugar-Jaeger syndrome: A rare genetic disorder characterized by patches of skin depigmentation as well as neurological problems such as incoordination, deafness and mental retardation.
• Temtamy preaxial brachydactyly syndrome: A rare syndrome characterized by mental retardation, deafness, retarded growth, finger abnormalities and various other anomalies.
• Tetraploidy: A very rare chromosomal disorder which results in various abnormalities. Infants are usually stillborn or die within months of birth.
• Therapeutic Radiation - Teratogenic Agent: There is strong evidence to indicate that therapeutic radiation during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Thin ribs - tubular bones - dysmorphism: A very rare syndrome characterized mainly by thin ribs, narrow-shafted long bones and a large head.
• Thoracic dysplasia - hydrocephalus syndrome: A very rare syndrome characterized by abnormal chest development and excess fluid inside the skull.
• Thrombocytopenia - Robin sequence: A very rare syndrome characterized by a variety of abnormalities such as short stature, unusual hair, reduced blood platelets, heart defects and tooth enamel anomaly.
• Thrombocytopenia - cerebellar hypoplasia - short stature: A very rare syndrome characterized mainly by short stature, low blood platelets and abnormal brain development.
• Thymic-Renal-Anal-Lung dysplasia: A rare syndrome characterized by abnormalities involving the lungs, anus, kidneys and thymus.
• Thyroid agenesis: A rare disorder where the thyroid fails to develop resulting in hypothyroidism from birth.
• Thyroid symptoms: Symptoms affecting the thyroid gland
• Timolol - Teratogenic Agent: There is evidence to indicate that exposure to Timolol during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Timothy syndrome: A rare syndrome characterized by webbed fingers and a heart defect. Most affected individuals die during early childhood or infancy.
• Tobacco (smoking) - Teratogenic Agent: There is evidence to indicate that exposure to Tobacco (smoking)during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Tranquilizer addiction: An uncontrollable desire to use tranquilizers on a regular basis. Tranquilizers are often prescribed for the treatment of anxiety and sleeping problems but chronic use can lead to dependence on the drug. Frequent use leads to an increased tolerance to the drug so higher and higher doses are required to achieve the desired euphoric feeling.
• Transposition of great arteries: A congenital malformation where the aorta and pulmonary artery are transposed which causes oxygenated blood from the lungs to be sent back to the lungs and de-oxygenated blood to be sent to body tissues. Often there is some other defect such as an opening in the heart chambers which allows mixing of the blood and hence survival is possible for a short while at least.
• Tretinoin (topical) - Teratogenic Agent: There is evidence to indicate that exposure to Tretinoin (topical) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Triamcinolone - Teratogenic Agent: There is evidence to indicate that exposure to Triamcinolone during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Triazolam - Teratogenic Agent: There is evidence to indicate that exposure to Triazolam during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Trichlormethiazide - Teratogenic Agent: There is evidence to indicate that exposure to Trichlormethiazide during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Tricho odonto onycho dermal syndrome: A very rare syndrome characterized by hair, tooth, nail and skin abnormalities.
• Tricho-hepato-enteric syndrome: A very rare syndrome characterized mainly by hair and liver abnormalities as well as severe diarrhea that usually starts in early infancy and can lead to death.
• Trichomegaly - tapetoretinal degeneration - growth disturbance syndrome: A syndrome characterized by hair abnormalities and growth and eye problems.
• Trichorhinophalangeal syndrome type 1: A rare genetic disorder characterized by bulbous nose, sparse hair and coning of epiphyses.
• Trichorhinophalangeal syndrome type 2: A rare genetic disorder characterized by bony growths, bulbous nose, distinctive facial features and loose excess skin during infancy.
• Trichorrhexis nodosa syndrome: A rare condition characterized by brittle hair, mental and growth retardation as well as various other abnormalities. The hair is brittle because due to the reduced amount of sulfur in it and the formation of weak spots (nodes) along it which results in it breaking off easily.
• Trichothiodystrophy - sun sensitivity: A rare condition characterized by short brittle hair
• Trichothiodystrophy, type C: A rare condition characterized by brittle hair, mental and growth retardation as well as various other abnormalities. The hair is brittle because due to the reduced amount of sulfur in it and the formation of weak spots (nodes) along it which results in it breaking off easily.
• Trichothiodystrophy-neurocutaneous Syndrome: A rare condition characterized by brittle hair, mental and growth retardation as well as various other abnormalities. The hair is brittle because due to the reduced amount of sulfur in it and the formation of weak spots (nodes) along it which results in it breaking off easily.
• Trichothiodystrophy-neurotrichocutaneous Syndrome of Pollitt: A rare condition characterized by brittle hair, mental and growth retardation as well as various other abnormalities. The hair is brittle because due to the reduced amount of sulfur in it and the formation of weak spots (nodes) along it which results in it breaking off easily.
• Tricuspid atresia: A rare congenital malformation where the tricuspid valve is absent and hence the right atrium is not connected to the right ventricle
• Trimethadione - Teratogenic Agent: There is evidence to indicate that exposure to Trimethadione during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Trisomy 10 mosaicism: A very rare chromosomal disorder where there is an extra copy of chromosome 10 in some of the body's cells. Some cases with this chromosomal abnormality have no clinical symptoms. The presence of abnormalities in some cases is dependent on which body cells contain the chromosomal defect.
• Trisomy 12 mosaicism: A very rare chromosomal disorder where there is an extra copy of chromosome 12 in some of the body's cells. Some cases with this chromosomal abnormality have no clinical symptoms. The presence of abnormalities in some cases is dependent on which body cells contain the chromosomal defect.
• Trisomy 14 Mosaic: A rare chromosomal disorder characterized by retarded growth before and after birth, mental retardation, developmental delay and various physical abnormalities. The type and severity of symptoms may vary between patients.
• Trisomy 14 Mosaicism Syndrome: A rare chromosomal disorder characterized by retarded growth before and after birth, mental retardation, developmental delay and various physical abnormalities. The type and severity of symptoms may vary considerably between patients depending on how many of the body's cells have the extra genetic material.
• Trisomy 18 mosaicism: A rare genetic chromosomal syndrome where the child has an extra third copy of chromosome 18 in only some of the body's cells. It is a less severe form of Edwards syndrome - the most severe form involves and extra copy of chromosome 18 in all of the body's cells. The severity of the condition is highly variable depending on how many of the body's cells are involved.
• Trisomy 20 mosaicism: A very rare chromosomal disorder where there is an extra copy of chromosome 20 in some of the body's cells. Some cases with this chromosomal abnormality have no clinical symptoms. The presence of abnormalities in some cases is dependent on which body cells contain the chromosomal defect.
• Trisomy 21 mosaicism: A very rare chromosomal disorder where there is an extra copy of chromosome 1 in some of the body's cells. The presence of trisomy 20 in all cells causes Down's syndrome and thus the presence in fewer body cells results in conditions that are similar to Down's but tend to be milder.
• Trisomy 22 mosaicism: A very rare chromosomal disorder where there is an extra copy of chromosome 22 in some of the body's cells. Some cases with this chromosomal abnormality have no clinical symptoms. The presence of abnormalities in some cases is dependent on which body cells contain the chromosomal defect.
• Trisomy 5 mosaicism: A very rare chromosomal disorder where there is an extra copy of chromosome 5 in some of the body's cells. Some cases with this chromosomal abnormality have no clinical symptoms. The presence of abnormalities in some cases is dependent on which body cells contain the chromosomal defect.
• Trisomy 6: A rare chromosomal disorder involving the duplication of chromosome 6 which results in variable symptoms including mental retardation, retarded growth, facial anomalies and various other abnormalities. Full Trisomy 6 is results in spontaneous abortion whereas various degrees of Trisomy 6q can result in syndromes of variable severity depending on the size of the duplication.
• Trisomy 6 mosaicism: A very rare chromosomal disorder where there is an extra copy of chromosome 6 in some of the body's cells. Some cases with this chromosomal abnormality have no clinical symptoms. The presence of abnormalities in some cases is dependent on which body cells contain the chromosomal defect.
• Trisomy 8 mosaicism: A very rare chromosomal disorder where there is an extra copy of chromosome 8 in some of the body's cells. Some cases with this chromosomal abnormality have no clinical symptoms. The presence of abnormalities in some cases is dependent on which body cells contain the chromosomal defect.
• Tuberous sclerosis: A rare genetic disorder characterized by harmartomatous skin nodules, seizures, phakomata and bone lesions.
• Turner Syndrome: Rare chromosome syndrome with one X but no second X or Y chromosome.
• Turner syndrome associated Celiac Disease: Females with Turner syndrome are more susceptible to developing celiac disease than the average population. Celiac disease is an autoimmune disorder characterized by intolerance to gluten by the small intestine. The type and severity of symptoms varies amongst people - some people have severe gastrointestinal symptoms from infancy whereas other have no symptoms other than fatigue or anemia during adulthood.
• Turner-mongolism polysyndrome: A rare syndrome characterized by webbed neck, elbow abnormalities and infantilism.
• Type 1 diabetes related Celiac Disease: Patients with Type 1 diabetes are more susceptible to developing celiac disease than the average population. Celiac disease is an autoimmune disorder characterized by intolerance to gluten by the small intestine. The type and severity of symptoms varies amongst people - some people have severe gastrointestinal symptoms from infancy whereas other have no symptoms other than fatigue or anemia during adulthood.
• Type I spinal osteoporosis: Spinal osteoporosis is rarely diagnosed until spinal bones have broken. These breaks occur at the weakest points of the spinal column.
• UDP-Galactose-4-epimerase deficiency: A condition which is characterised by a mutation in the UDP-galactose-4-epimerase gene.
• Ulna hypoplasia with mental retardation: A condition which is characterised by short upper limbs, club feet, and absence of fingernails.
• Ulnar hypoplasia with mental retardation: A condition which is characterised by short upper limbs, club feet, and absence of fingernails
• Uniparental disomy: Getting both of a chromosome pair from one parent
• Uniparental disomy 13: A condition which is characterised by the uniparental disomy of chromosome 13
• Uniparental disomy of 11: A condition which is characterised by the uniparental disomy of chromosome 11
• Uniparental disomy of 13: A condition which is characterized by the uniparental disomy of chromosome 13. This means that the patient receives two copies of chromosome 13 from one parent instead of one copy from each parent. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is duplicated.
• Uniparental disomy of 2: A condition which is characterised by the uniparental disomy of chromosome 2
• Uniparental disomy of 6: A condition which is characterised by the uniparental disomy of chromosome 6
• Uniparental disomy, paternal, chromosome 14: A condition which is characterised by the uniparental disomy of chromosome 14
• Upper limb defect eye and ear abnormalities: A rare disorder characterized by underdeveloped thumb and ear, deafness and an eye defect.
• Urban Roger Meyer syndrome: A syndrome which is characterised by genital anomalies, mental retardation, and obesity
• Urinary tract infection: Infection of the urinary tract
• Urinary tract infections (child): Infection of the urinary system in children.
• Urocanase deficiency: A condition characterised by the deficiency of the urocanase enzyme
• Ursodeoxycholic Acid - Teratogenic Agent: There is evidence to indicate that exposure to Ursodeoxycholic Acid during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Usher Syndrome Type 1: A rare inherited disorder characterized by sensorineural deafness at birth or soon after and progressive vision loss which starts during the first decade of life and blindness usually occurs between 20-35 years of age. Symptoms are generally more severe than in type 2 with deafness occurring at birth or during first year and vision loss starting during childhood.
• Usher Syndrome Type 3: A rare inherited disorder where children are born with normal hearing and vision which progressively deteriorates at a variable rate.
• Usher syndrome, type 1B: A syndrome which is characterised by congenital bilateral sensorineural hearing loss
• Usher syndrome, type 1C: A rare inherited disorder characterized by sensorineural deafness and progressive vision loss which starts during the first decade of life and blindness usually occurs between 20-35 years of age. Symptoms are generally more severe than in type 2 with deafness occurring at birth or during first year and vision loss starting during childhood. The defect occurs on chromosome 11p15.1.
• Usher syndrome, type 1D: A rare inherited disorder characterized by sensorineural deafness and progressive vision loss which starts during the first decade of life and blindness usually occurs between 20-35 years of age. Symptoms are generally more severe than in type 2 with deafness occurring at birth or during first year and vision loss starting during childhood. The defect occurs on chromosome 10q21-q22.
• Usher syndrome, type 1E: A rare inherited disorder characterized by sensorineural deafness and progressive vision loss which starts during the first decade of life and blindness usually occurs between 20-35 years of age. Symptoms are generally more severe than in type 2 with deafness occurring at birth or during first year and vision loss starting during childhood. The defect occurs on chromosome 21q21.
• Usher syndrome, type 1F: A rare inherited disorder characterized by sensorineural deafness and progressive vision loss which starts during the first decade of life and blindness usually occurs between 20-35 years of age. Symptoms are generally more severe than in type 2 with deafness occurring at birth or during first year and vision loss starting during childhood. The defect occurs on chromosome 10q21-q22.
• Usher syndrome, type 2A: A syndrome which is characterised by congenital bilateral sensorineural hearing loss
• Usher syndrome, type 2B: A syndrome which is characterised by congenital bilateral sensorineural hearing loss
• Usher syndrome, type 2C: A syndrome which is characterised by congenital bilateral sensorineural hearing loss
• VACTERL hydrocephaly: A rare syndrome characterized by the VACTERL abnormalities (vertebral anomalies, anal atresia, congenital cardiac disease, tracheoesophageal fistula, renal anomalies, radial dysplasia, limb defects) as well as a buildup of fluid inside the skull (hydrocephalus).
• VACTERL with hydrocephalus, X-linked: A rare X-linked syndrome characterized by the VACTERL abnormalities (vertebral anomalies, anal atresia, congenital cardiac disease, tracheoesophageal fistula, renal anomalies, radial dysplasia, limb defects) as well as a buildup of fluid inside the skull (hydrocephalus).
• Vagneur Triolle Ripert syndrome: A condition that is characterised by lymphoedema of the lower extremities and recurrent respiratory system problems
• Valinemia: A very rare metabolic disorder where a deficiency of the enzyme valine transaminase results in increased blood and urine levels of the amino acid called valine.
• Valium - Teratogenic Agent: There is evidence to indicate that exposure to Valium during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Valium overdose - Teratogenic Agent: There is evidence to indicate that exposure to Valium overdose during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Valproic Acid - Teratogenic Agent: There is evidence to indicate that exposure to Valproic Acid during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Valproic acid antenatal infection: A condition which usually occurs in a fetus due to the mother taking valproic acid for epileptic seizures
• Valsartan - Teratogenic Agent: There is evidence to indicate that exposure to Valsartan during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Van Bogaert-Hozay syndrome: A rare disorder characterized by destruction of ends of finger bones, mental retardation, skin wasting and eye and facial abnormalities.
• Van Buchem disease type 2: A disease which is characterised by early onset osteoporosis
• Van Regemorter Pierquin Vamos syndrome: A syndrome which is characterised by multiple congenital abnormalities
• Van Wyk-Grumbach syndrome: A condition involving premature menstruation and abnormal milk production in children who suffer from severe hypothyroidism.
• Van den Bosch syndrome: A syndrome which is characterised by mental deficiency, choroideremia, acrokeratosis, verruciformis, anhidrosis, skeletal deformity
• Vasotec - Teratogenic Agent: There is evidence to indicate that exposure to Vasotec (an ACE inhibitor) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Vasquez Hurst Sotos syndrome: A rare genetic disorder characterized by underdeveloped genitals, obesity, mental retardation and skeletal abnormalities.
• Vater-like syndrome, with pulmonary hypertension, abnormal ears and growth deficiency: A rare syndrome characterized by unusual ears, retarded growth, pulmonary hypertension.
• Velocardiofacial syndrome: A genetic disorder which can present with a wide range of phenotypic manifestations which has lead to a number of different names being assigned to the various presentations e.g. DiGeorge Syndrome and Cayler Anomaly Face Syndrome. There are nearly 200 different symptoms that can occur and the severity of the condition is also highly variable depending on the nature and severity of the symptoms that are present.
• Venencie Powell Winkelmann syndrome: A congenital condition that is characterised by the occurrence of a number of clinical signs and symptoms
• Verloes Gillerot Fryns syndrome: A syndrome characterised by multiple congenital abnormalities and mental retardation.
• Verloes-Deprez syndrome: A rare syndrome characterized by the association of scoliosis, muscle disease and eye condition called Duane anomaly.
• Vernal keratoconjunctivitis: A rare allergic type of conjunctivitis (inflammation of the lining of the eyelid and most of the eye) which occurs seasonally in warm weather
• Viljoen Smart syndrome: A type of x-linked mental retardation discovered by Hamel
• Viljoen Winship syndrome: A type of x-linked mental retardation discovered by Gustavson
• Viljone Kallis Voges syndrome: A syndrome characterised by microcephaly, short statures, brachydactyly, lowe set ears, prominent nose and mental retardation
• Vinblastine - Teratogenic Agent: There is evidence to indicate that exposure to Vinblastine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Vincristine - Teratogenic Agent: There is evidence to indicate that exposure to Vincristine during pregnancy and even the during the year leading up to the pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Visceral neuropathy - brain anomalies - facial dysmorphism - developmental delay: A rare syndrome characterized by developmental delay, unusual facial appearance, brain anomalies and impaired intestinal motility.
• Vitamin A deficiency: Dietary deficiency of vitamin A
• Vitamin K antagonists embryofoetopathy: Abnormalities and deformities that occur in infants due to exposure to oral anticoagulants during the fetal stage.
• Vitiligo mental retardation facial dysmorphism uremia: A condition that is characterised by a number of symptoms including mental retardation, facial dysmorphism and uremia
• Von Gierke Disease: An inherited metabolic disorder where a deficiency of the enzyme glucose-6-phosphatase prevents glycogen being turned into glucose leading to a buildup of glycogen in the liver and kidneys.
• Von Gierke disease IA: A genetic metabolic disorder involving a deficiency of the enzyme glucose-6-phosphatase which results in the accumulation of glycogen in various tissues. G6P is stored as glycogen until the body needs to convert it to a sugar and use it to create energy. The enzyme deficiency prevents the conversion and hence low blood sugar levels result.
• W syndrome: A rare genetic disorder involving distinctive facial features, mental retardation, speech problems and limb deformities.
• WAGR Syndrome: A syndrome that is due to the deletion of chromosome 11.
• Walker Dyson syndrome: A syndrome that is characterised by mental retardation, aniridia and vision problems.
• Walker-Warburg Syndrome: A rare inherited disorder characterized by brain malformations and retinal and muscle abnormalities.
• Warburg Sjo Fledelius syndrome: A syndrome that is characterised by visual and neurological problems as well as microgenitalia
• Warburton Anyane Yeboa syndrome: A syndrome that is characterised by the occurrence of aneuploidy that can be manifested as monosomies or trisomies
• Warfarin - Teratogenic Agent: There is evidence to indicate that exposure to Warfarin during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Warfarin syndrome: Various physical and other abnormalities that can result from the use of the drug Warfarin during the first trimester of pregnancy.
• Watson syndrome: A rare syndrome characterized by short stature, reduced intelligence, café au lait spots and narrowing of pulmonary valves.
• Weaver Johnson syndrome: A syndrome that is characterised by craniosynostosis and cleft lip
• Weaver Syndrome: A syndrome that is considered a variant of the Marshall-Smith syndrome
• Weaver Williams syndrome: Any condition that affects the testicles
• Webster Deming syndrome: A craniofrontonasal dysplasia that is x-linked in inheritance
• Weismann-Netter-Stuhl Syndrome: A very rare inherited disorder characterized by bone development abnormalities.
• Weleber Hecht Bigley syndrome: A syndrome that is characterised by cataract hyperostosis and dislocating patella
• Wellesley Carmen French syndrome: A syndrome characterised visual difficulties and growth retardation
• Wellesley-Carman-French Syndrome: A rare syndrome characterized by cataracts, growth problems and abnormal mouth tissue (frenulum).
• Westphal disease: A condition that is closely associated with Huntington's disease and is a clinical variant of it
• White matter hypoplasia, corpus callosum agenesia, and mental retardation: A syndrome which is characterised by white matter hypoplasia, corpus callosum agenesia, and mental retardation
• Wieacker syndrome: A rare disorder involving muscle weakness and wasting, foot deformities, mental retardation and face muscle anomalies.
• Wiedemann Oldigs Oppermann syndrome: A rare syndrome characterized mainly by excessive hair growth, mental retardation and skeletal abnormalities.
• Wilkes Stevenson syndrome: A syndrome that is characterised by multiple congenital abnormalities
• William's syndrome associated Celiac Disease: Patients with William's syndrome are more susceptible to developing celiac disease than the average population. Celiac disease is an autoimmune disorder characterized by intolerance to gluten by the small intestine. The type and severity of symptoms varies amongst people - some people have severe gastrointestinal symptoms from infancy whereas other have no symptoms other than fatigue or anemia during adulthood.
• Williams Syndrome: A syndrome characterised by mental retardation, facial abnormalities and emotional instability
• Wilms tumor - aniridia - genitourinary anomalies - mental retardation: A syndrome resulting from deletion of genetic material from chromosome the short arm of chromosome 11 (11p13). The characteristic symptoms are partial or complete absence of iris, genitourinary anomalies, mental retardation and Wilms' tumor. The specific range and severity of symptoms is variable depending on the size and exact location of the genetic material that is missing.
• Wilson's disease: Wilson disease, or hepatolenticular degeneration, is a neurodegenerative disease of copper metabolism.
• Wilson-Turner X-linked mental retardation: A condition that is characterised by mental retardation with gynecomastia and obesity
• Winship Viljoen Leary syndrome: A syndrome that is characterised by microcephaly with mental retardation and cardiomyopathy
• Winter Shortland Temple syndrome: A congenital syndrome characterised by multiple birth defects and dysmorphic features
• Wittwer sydnrome: A syndrome that is characterised by the occurrence of growth retardation, blindness, hearing loss, dysmorphic features, epilepsy, mental retardation and the absence of speech
• Wolcott-Rallison syndrome: A very rare genetic condition characterized primarily by the onset of diabetes mellitus during infancy and epiphyseal dysplasia (abnormal joint development).
• Wolf-Hirschorn syndrome: A syndrome characterised by the partial deletion of the short arm of chromosome 4
• Wolfram Syndrome 2: Wolfram Syndrome is a condition characterized by the association of diabetes insipidus, diabetes mellitus, optic atrophy and deafness. Type 2 is the result of a genetic defect and is similar to type 1 but there is no diabetes insipidus and patients tend to develop gastrointestinal problems.
• Woodhouse Sakati syndrome: A condition which consists of numerous symptoms such as diabetes, hypogonadism, deafness and mental retardation
• Woods Leversha Rogers syndrome: A condition which is characterised by severe intrauterine growth retardation with an increase in the sensitivity to mitomycin C sensitivity
• Worster Drought syndrome: A mild form of tetraplegic cerebral palsy
• Wrinkly skin syndrome: A very rare genetic disorder characterized by wrinkly skin that occurs primarily on the palms and soles but can occur on other parts of the body. The condition is also associated with various other abnormalities.
• Writing symptoms: Problems with writing ability
• X chromosome, duplication Xq13 1 q21 1: A condition characterised by the duplication of the long arm of chromosome X.
• X chromosome, trisomy 26-28: A condition characterised by the duplication of the long arm of chromosome X.
• X chromosome, trisomy Xp3: A condition characterised by the duplication of the long arm of chromosome X.
• X chromosome, trisomy Xpter Xq13: A condition characterised by the duplication of the long arm of chromosome X.
• X chromosome, trisomy Xq: A condition characterised by the duplication of the long arm of chromosome X.
• X chromosome, trisomy Xq25: A condition characterised by the duplication of the long arm of chromosome X.
• X fragile site folic acid type: A fragile X syndrome that is characterised by mental retardation and developmental delay
• X-Linked Agammaglobulinemia: Immune deficiency from lack of antibodies.
• X-linked alpha thalassemia mental retardation syndrome (ATR-X): An x-linked condition that features mental retardation, dysmorphic features, and alpha thalassemia
• X-linked mental retardation Brooks type: A type of x-linked mental retardation discovered by Brooks
• X-linked mental retardation Hamel type: A type of x-linked mental retardation discovered by Hamel
• X-linked mental retardation associated with marXq2: A type of x-linked mental retardation associated with the marXq2 gene
• X-linked mental retardation craniofacial abnormal microcepahly club: An x-linked condition that is characterised by mental retardation and dysmorphic facies
• X-linked mental retardation de silva type: A type of x-linked mental retardation discovered by De Silva
• X-linked mental retardation type Gustavson: A type of x-linked mental retardation discovered by Gustavson
• X-linked mental retardation type Martinez: A type of x-linked mental retardation discovered by Martinez
• X-linked mental retardation type Raynaud: A type of x-linked mental retardation discovered by Raynaud
• X-linked mental retardation type Schutz: A type of x-linked mental retardation discovered by Schutz
• X-linked mental retardation type Wittner: A type of x-linked mental retardation discovered by Wittner
• Xeroderma pigmentosum, type 1: A rare genetic disorder where the enzyme that repairs DNA damage done by UV radiation is defective. It is characterized by sensitivity to sunlight, skin pigmentation and atrophy and actinic skin tumors. The different types of xeroderma pigmentosum vary in the body's ability to repair the damage to DNA done by UV radiation - type 1 has the lowest level of repair and the most neurological complications.
• Xeroderma pigmentosum, type 2: A rare genetic disorder where the enzyme that repairs DNA damage done by UV radiation is defective. It is characterized by sensitivity to sunlight, skin pigmentation and atrophy and actinic skin tumors. The different types of xeroderma pigmentosum vary in the body's ability to repair the damage to DNA done by UV radiation. Type B is often associated with signs of Cockayne syndrome.
• Young Hughes syndrome: A sex linked condition that is characterised by mental retardation and hypogonadism
• Young Simpson syndrome: A condition that is characterised by mainly mental retardation and physical signs of hypothyroidism
• Zazam Sheriff Phillips syndrome: A medical condition that is characterised by deformities of the eyes and face
• Zellweger Syndrome: Zellweger spectrum disorders are a group of rare, genetic, multisystem disorders that were once thought to be separate entities. These disorders are now classified as different expressions (variants) of one disease process. Collectively, they form a spectrum or continuum of disease. Zellweger syndrome is the most severe form; neonatal adrenoleukodystrophy is the intermediate form; and infantile Refsum disease is the mildest form.
• Zellweger-like syndrome, without peroxisomal anomalies: A rare syndrome characterized by unusual facial appearance, very low muscle tone, mental retardation and metabolic defects.
• Zidovudine - Teratogenic Agent: There is evidence to indicate that exposure to Zidovudine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Zinc deficiency: When there is a deficiency of zinc in an individuals body
• Zonular cataract and nystagmus: Cataracts that affect only certain layers of the lens
• Zori Stalker Williams syndrome: A condition that is characterised by deformities of the head, chest and nails

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