Glossary for Swollen head

Medical terms related to Swollen head or mentioned in this section include:

• $2-Hydroxyglutaricaciduria$: 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.
• $3-M Syndrome$: 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.
• $3C syndrome$: A rare disorder characterized by cardiac malformations, cerebellar hypoplasia and cranial dysmorphism which gives the disease it's name.
• ADANE: A potentially fatal inherited neurological disease involving brain lesions. Symptoms tend to occur during childhood after an illness involving a fever. The disease is similar to Leigh syndrome but the course is acute rather than chronic.
• Aase Smith syndrome: A rare hereditary syndrome characterized by deformities such as cleft palate, joint contractures and hypoplastic anemia.
• Accutane - Teratogenic Agent: There is strong evidence to indicate that the use of Accutane 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.
• Achondrogenesis type 1A and 1B: A rare lethal genetic disorder characterized by a low nasal bridge, very short limbs and incomplete bone formation of lower spine.
• Achondrogenesis type 1B: A rare lethal genetic disorder characterized by a low nasal bridge, very short limbs and incomplete bone formation of lower spine.
• Achondrogenesis type 2: A rare genetic disorder characterized by very small stature, abnormal bone formation and early death.
• Achondrogenesis, Langer-Saldino Type: A rare genetic disorder characterized by very small stature, abnormal bone formation and early death.
• Achondroplasia: A rare disease characterized by abnormal bone growth which results in short stature with short arms and legs, large head and characteristic facial features.
• Acrocallosal Syndrome (Schinzel Type): A rare condition characterized by absence of portion of the brain (corpus callosum), mental deficiency, duplicated toes, mental deficiency and other abnormalities.
• Acrocephalopolydactyly: A rare genetic condition characterized by limb abnormalities, extra digits and hydrocephalus. Other additional symptoms are variably present.
• Acrocephalosyndactyly Syndrome type 5: A rare genetic disorder where some of the skull bones fuse too early which affects the size and shape of the skull and face. Thumb and toe abnormalities are also present. There are three types of Pfeiffer syndrome with varying degrees of severity.
• Acrocephalosyndactyly type 5 (ACPS 5): A rare genetic disorder where some of the skull bones fuse too early which affects the size and shape of the skull and face. Thumb and toe abnormalities are also present. There are three types of Pfeiffer syndrome with varying degrees of severity.
• Acromegaly: An abnormal enlargement of the limbs due to increased secretion of growth hormone after the cessation of puberty
• Acromesomelic dysplasia: A rare genetic progressive skeletal disorder characterized by short limbs, a large head and lower thoracic kyphosis.
• Acutane embryopathy: A rare disorder caused by fetal exposure to retinoids and resulting in mental and physical birth defects.
• Acute hemorrhagic leukoencephalitis: A rare degenerative brain disease where the patient suffers edema, many small hemorrhages, necrosis of blood vessel walls, demyelination of nerve fibers. Histiocytes, lymphocytes and neutrophils also enter the meninges. Symptoms include severe headache, fever, vomiting and sometimes convulsions and unconsciousness. Also called acute hemorrhagic leukoencephalitis.
• Acute vitamin A toxicity: Acute ingestion of vitamin A can cause symptoms. Symptoms usually only last for a day or two.
• Acyclovir - Teratogenic Agent: There is strong evidence to indicate that exposure to Acyclovir 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.
• Agenesis of the corpus callosum: Congenital absence of connective part of the brain.
• 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.
• Alexander Syndrome: Brain myelin disorder causing mental degeneration.
• Alpha-ketoglutarate dehydrogenase deficiency: A metabolic disorder characterized by a deficiency of Alpha-ketoglutarate dehydrogenase which results in high levels of oxoglutaric acid in the urine as well as other severe symptoms.
• 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.
• Aminopterin and methotrexate - Teratogenic Agent: There is strong evidence to indicate that the use of Aminopterin and methotrexate 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.
• Amitriptyline - Teratogenic Agent: There is strong evidence to indicate that exposure to Amitriptyline 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.
• Amlodipine - Teratogenic Agent: There is strong evidence to indicate that exposure to Amlodipine 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.
• Aneurysm, intracranial berry: A bulge in a blood vessel in the brain. The bulge can rupture causing a stroke. They usually form as a result of high blood pressure and weak blood vessel walls in the brain. There are five different subtypes of intracranial berry aneurysms with each one caused by a defect in different gene. The defective gene increases and individuals risk for developing intracranial berry aneurysms.
• Aneurysm, intracranial berry, 1: A bulge in a blood vessel in the brain. The bulge can rupture causing a stroke. They usually form as a result of high blood pressure and weak blood vessel walls in the brain. There are five different subtypes of intracranial berry aneurysms with each one caused by a defect in different gene. The defective gene increases and individuals risk for developing intracranial berry aneurysms. Type 1 is caused by a defect on chromosome 7q11.2.
• Aneurysm, intracranial berry, 2: A bulge in a blood vessel in the brain. The bulge can rupture causing a stroke. They usually form as a result of high blood pressure and weak blood vessel walls in the brain. There are five different subtypes of intracranial berry aneurysms with each one caused by a defect in different gene. The defective gene increases and individuals risk for developing intracranial berry aneurysms. Type 2 is caused by a defect on chromosome 19q13.
• Aneurysm, intracranial berry, 3: A bulge in a blood vessel in the brain. The bulge can rupture causing a stroke. They usually form as a result of high blood pressure and weak blood vessel walls in the brain. There are five different subtypes of intracranial berry aneurysms with each one caused by a defect in different gene. The defective gene increases and individuals risk for developing intracranial berry aneurysms. Type 3 is caused by a defect on chromosome 1p36.13-p34.3.
• Aneurysm, intracranial berry, 4: A bulge in a blood vessel in the brain. The bulge can rupture causing a stroke. They usually form as a result of high blood pressure and weak blood vessel walls in the brain. There are five different subtypes of intracranial berry aneurysms with each one caused by a defect in different gene. The defective gene increases and individuals risk for developing intracranial berry aneurysms. Type 4 is caused by a defect on chromosome 5p15.2-14.3.
• Aneurysm, intracranial berry, 5: A bulge in a blood vessel in the brain. The bulge can rupture causing a stroke. They usually form as a result of high blood pressure and weak blood vessel walls in the brain. There are five different subtypes of intracranial berry aneurysms with each one caused by a defect in different gene. The defective gene increases and individuals risk for developing intracranial berry aneurysms. Type 5 is caused by a defect on chromosome 2p13.
• Aneurysm, intracranial berry, 6: A bulge in a blood vessel in the brain. The bulge can rupture causing a stroke. They usually form as a result of high blood pressure and weak blood vessel walls in the brain. There are now six different subtypes of intracranial berry aneurysms with each one caused by a defect in different gene. The defective gene increases an individuals risk for developing intracranial berry aneurysms. Type 6 is caused by a defect on chromosome 9p21.
• Aneurysm, intracranial berry, 7: A bulge in a blood vessel in the brain. The bulge can rupture causing a stroke. They usually form as a result of high blood pressure and weak blood vessel walls in the brain. There are five different subtypes of intracranial berry aneurysms with each one caused by a defect in different gene. The defective gene increases and individuals risk for developing intracranial berry aneurysms. Type 7 is caused by a defect on chromosome 11q24-q25.
• Aneurysm, intracranial berry, 8: A bulge in a blood vessel in the brain. The bulge can rupture causing a stroke. They usually form as a result of high blood pressure and weak blood vessel walls in the brain. There are five different subtypes of intracranial berry aneurysms with each one caused by a defect in different gene. The defective gene increases and individuals risk for developing intracranial berry aneurysms. Type 8 is caused by a defect on chromosome 14q23.
• Angioneurotic Edema: Involves swelling of deep skin layers and fatty tissues under the skin as well as the mucous membrane. The condition involves recurrent swelling of tissues, abdominal pain and swelling of the voice box. It is often caused by an allergic reaction to drugs or food. It is also called Quincke's disease, giant urticaria, Quincke's edema or angioedema.
• Anophthalmia - hypothalamo-pituitary insufficiency: A rare syndrome characterized mainly by small or absent eyes and malformations of the hypothalamus and pituitary gland.
• Anophthalmia - hypyothalamo-pituitary insufficiency: A rare syndrome characterized mainly by small or absent eyes and malformations of the hypothalamus and pituitary gland.
• Aplasia cutis congenita - epibulbar dermoids: A very rare syndrome characterized by increased skin pigmentation, a localized absence of skin (aplasia cutis congenital) and epibulbar dermoids (a benign eye tumor).
• 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.
• Arnold-Chiari malformation type 2: A rare malformation where the base of the brain enters into the upper spinal canal. The extent of the deformity is greater in type 2 than type 1 and hence the symptoms are more severe and are often associated with a myelomeningocele (opening of the spine and spinal cord).
• Arnold-Chiari malformation type 3: An extremely rare malformation where the base of the brain enters into the upper spinal canal. Type 3 involves the herniation of brain or brain stem tissue out of the back of the neck or head. The condition generally has a poor prognosis.
• Atkin-Flatiz syndrome: A rare, X-linked syndrome characterized mainly by mental retardation and facial anomalies.
• Auriculo-condylar syndrome: A rare syndrome characterized by variable ear and jaw abnormalities.
• Autosomal Recessive Tetra-Amelia: A rare disorder characterized by the absence of all four extremities as well as skeletal, nervous system, craniofacial and other abnormalities. The condition is causes death before or soon after birth.
• 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.
• BANF acoustic neurinoma: A type of tumor that affects hearing and is associated with a condition called BANF (bilateral acoustic neurofibromatosis). The tumor is benign an occurs in the cells that form the myelin sheath of the vestibulocochlear nerve. The symptoms vary depending on the size and exact location of the nerve. The tumor may become large enough to compress against various cranial nerves or even the brainstem.
• BOR-Duane hydrocephalus contiguous gene syndrome: A very rare syndrome characterized primarily by an eye movement disorder (Duane syndrome), abnormal trapezius muscle (runs from neck to shoulder), hydrocephalus and BOR syndrome (branchio-oto-renal syndrome with branchial, eye and kidney abnormalities).
• Bagatelle-Cassidy syndrome: An extremely rare syndrome characterized by a large head, widely spaced eyes, hearing loss, short limbs and developmental delay.
• Baker-Vinters syndrome: A very rare syndrome characterized by premature fusion of skull bones, hydrocephalus and abnormal development of the channel or duct in the middle of the brain that connects the third and fourth ventricles.
• Bannayan-Zonana syndrome: A rare genetic disorder characterized by macrocephaly, intestinal polyposis, pigmentation of penis and benign tumor-like growths.
• Basilar impression primary: A congenital bone abnormality where the skull and vertebrae meet which can compress some of the brain structures and result in neurological abnormalities. The defect is often associated with other vertebral abnormalities. In severe cases, the cerebrospinal fluid flow may be obstructed which can cause fluid to build up inside the skull (hydrocephalus).
• Beemer-Ertbruggen syndrome: A rare lethal syndrome characterized primarily by hydrocephalus, heart malformations, and increased bone density. Only a couple of cases have been reported.
• Benadryl - Teratogenic Agent: There is evidence to indicate that exposure to Benadryl 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.
• Benjamin syndrome: A rare disorder characterized mainly by anemia, bone abnormalities and mental and growth retardation.
• Beveridge syndrome: A rare syndrome characterized by a large head, skeletal and visceral problems and patches of reduced skin pigmentation.
• Biemond syndrome type 2: A rare inherited condition characterized by mental retardation, obesity, polydactyly and underdeveloped genitals.
• Bobble-head doll syndrome: A rare condition where a child's head bobs up and down continuously due to either fluid on the brain or a large cyst in the third ventricle of the brain.
• Bone dysplasia Moore type: A rare disorder characterized by abnormally bowed long bones. The bowed bones may be symmetrical or asymmetrical. The condition has only been observed in two siblings and is believed to be a previously undescribed disorder.
• Bone marrow failure - neurologic abnormalities: A rare syndrome characterized by the association of bone marrow failure and neurological abnormalities.
• Bowing of Long Bones, Asymmetrical and Symmetrical: A very rare syndrome characterized by bowed long bones, unusual skull appearance and wide-set eyes.
• Braddock Jones Superneau syndrome: A very rare disorder characterized primarily by the premature fusion of skull bones (sagittal), the Dandy-Walker malformation and a buildup of fluid in the brain (hydrocephalus). The Dandy-Walker malformation is where a cyst develops in the back of the brain and interferes with the movement of fluid through the brain resulting in an accumulation of fluid.
• Brain compression: Internal compression of the brain
• Brain swelling: Swelling or enlargement of the brain
• Brain symptoms: Symptoms affecting the brain
• Bromocriptine - Teratogenic Agent: There is strong evidence to indicate that exposure to Bromocriptine 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.
• Brown-Symmers disease: A rare form of brain inflammation that occurs in children and can quickly lead to death. Symptoms usually start suddenly.
• Budesonide - Teratogenic Agent: There is strong evidence to indicate that exposure to Budesonide 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.
• CMV antenatal infection: A rare condition where a fetus becomes infected with the cytomegalovirus through the mother.
• 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.
• 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.
• Carbon Monoxide - Teratogenic Agent: There is strong evidence to indicate that exposure to Carbon Monoxide 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.
• Cardiofaciocutaneous Syndrome: A rare genetic disorder characterized by short stature, congenital heart defects skin anomalies and frontal bossing.
• Carpenter syndrome: A rare genetic disorder characterized by premature closing of skull bones, craniofacial abnormalities, heart defects, growth retardation and other disorders.
• Cat Eye Syndrome: A rare chromosomal disorder involving abnormalities of chromosome 22 and characterized by coloboma of the iris, down-slanting palpebral fissures and anal atresia.
• Cennamo-Gangemi syndrome: A rare syndrome characterized by small eyes, congenital cataracts and hydrocephalus (buildup of fluid in the brain).
• 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.
• Cerebellum agenesis - hydrocephaly: A rare brain disorder which manifests as reduced muscle tone, ataxia, cataracts and mental retardation.
• Cerebral astrocytoma, adult: A very rare tumor that occurs in adults and develops in brain cells called astrocytes. The part of the brain involved is the cerebrum at the top of the head which controls functions such as reading, writing, thinking, learning, speech, emotion and voluntary movement.
• Cerebral gigantism - jaw cysts: A very rare syndrome characterized mainly by abnormal brain development and jaw cysts.
• Cerebral sarcoma: A type of brain tumor that can be inherited in an autosomal dominant manner. The tumor arises from blood vessels in the brain. Symptoms may vary depending on the size and exact location of the tumor.
• Cerebral ventricle neoplasm: A tumor that occurs in the fluid-filled spaces of the brain called the ventricles. Symptoms vary depending on the size and exact location of the tumor and whether it is cancerous or not.
• Cerebrovascular symptoms: Symptoms related to the brain's arteries
• Chemical poisoning - 1,4-Dioxane: 1,4-Dioxane is a chemical used mainly as a reagent in laboratries and as a solvent in chemical processing. The chemical is readily absorbed through the skin. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
• Chemical poisoning - Acetylsalicylic Acid: Acetylsalicylic Acid is also known as aspirin and is primarily used to relieve pain, fever and inflammation. Excessive exposure to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
• Chemical poisoning - Ethylene Glycol: Ethylene Glycol is a chemical used mainly in antifreeze, coolants and as a solvent. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure. Symptoms tend to occur in three phases: the first 12 hours involves inebriation, seizuresand brain swelling; the second and third day involves deterioration of lung and heart function and the third stage involves kidney damage and possibly failure. Death can occur during any of the stages.
• Chemical poisoning - Thallium Sulfate: Thallium Sulfate is a chemical used mainly in the manufacture of switches and closures in the semiconductor industry. It has historically also been used as a rodenticide. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
• Chiari Malformation: Protrusion of the brain down the spinal column.
• Chitayat-Moore-Del Bigio syndrome: A rare birth disorder characterized mainly by brain abnormalities, large head and facial anomalies.
• Chlorpheniramine - Teratogenic Agent: There is evidence to indicate that exposure to Chlorpheniramine (an antihistamine 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.
• Cholestyramine - Teratogenic Agent: There is evidence to indicate that exposure to Cholestyramine (cholesterol-lowering 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.
• Cholybar - Teratogenic Agent: There is evidence to indicate that exposure to Cholybar (cholesterol-lowering 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.
• Chondrodysplasia punctata lethal neonatal: A rare skeletal disorder which results in the infant's death before or soon after birth. Symptoms include a variety of severe skeletal abnormalities and an enlarged head.
• Chondrodysplasia, type Nance-Sweeney: A very rare condition characterized mainly by bone malformations, hearing loss and facial anomalies.@
• Choroid Plexus neoplasms: A rare type of brain tumor that originates in the choroids plexus. The choroids plexus is located inside a space in the brain called the ventricles and produces cerebrospinal fluid. Symptoms are determined by the size, type and exact location of the tumor.
• 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, trisomy 1q42 qter: A rare chromosomal disorder where duplication of a portion of chromosome 1 causes various abnormalities such as clubfoot, poor muscle tone, neurological dysfunction, short stature, mental retardation and narrowing of the pulmonary arteries and valves.
• 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 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 14 uniparental disomy syndrome: A rare chromosomal disorder where two homologues are obtained from one parent.
• Chromosome 14q, terminal duplication: A very rare syndrome caused by a duplication of a part of the material on chromosome 14 and resulting in various abnormalities such as retarded growth, hearing loss and mental retardation.
• 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, 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 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 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 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, monosomy 2q24: A genetic disorder characterized by the deletion of a portion of the long arm of chromosome 2.
• 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 duplication syndrome: A rare chromosomal disorder where the long arm of chromosome 22 is duplicated.
• 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 3, monosomy 3q13: A rare chromosomal disorder characterized by a range of abnormalities including facial anomalies, kidney dysfunction, large head, small penis and impaired joint mobility.
• 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 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 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 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 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 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 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, 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 8p deletion syndrome: A rare chromosomal disorder involving deletion of the short arm (p) of chromosome 8 resulting in various abnormalities.
• 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 9, Trisomy 9p (Multiple Variants): A rare chromosomal disorder characterized by mental retardation, head and face malformations and various other abnormalities.
• 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.
• Chronic vitamin A toxicity: Chronic excessive ingestion of vitamin A can cause symptoms.
• Clark-Baraitser syndrome: A very rare syndrome characterized mainly by tallness, large head, mental retardation and various facial anomalies.
• Clomiphene - Teratogenic Agent: There is evidence to indicate that exposure to Clomiphene 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.
• Cloverleaf skull micromelia thoracic dysplasia: A rare disorder characterized by a cloverleaf skull deformity, small limbs and bone abnormalities of the chest and spine. The disorder is lethal.
• 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.
• Codeine - Teratogenic Agent: There is evidence to indicate that exposure to Codeine (an opiate 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.
• Coffin-Lowry syndrome: A rare genetic disorder characterized by down slanting space between eyelids, bulbous nose, soft hands and tapering fingers.
• Cohen-Hayden syndrome: A very rare syndrome characterized mainly by mental retardation, eye defect and various growth abnormalities of the bone, skin and head.
• Colestyramine - Teratogenic Agent: There is evidence to indicate that exposure to Colestyramine (cholesterol-lowering 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.
• Collins-Sakati syndrome: A very rare syndrome characterized mainly by a short, broad toe and a large head.
• 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.
• Cone shell poisoning: A number of species of cone shells are capable of envenomating humans. The toxin is a neurotoxin and thus primarily affects the nervous system. Cone shells are found mainly in shallow waters of the Indian and Pacific oceans. The toxicity varies amongst species with some delivering a benign stink whereas others are capable of causing death. The cone snails a proboscis on the end of which is a poison-filled barb.
• Congenital Gigantism with Skeletal Dysplasia: A rare syndrome characterized mainly by the association of a large size at birth with various skeletal anomalies.
• Congenital Toxoplasmosis: Fetal infection with toxoplasmosis.
• Congenital disorder of glycosylation type 2D: 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 2d is caused by a defect on chromosome 9p13 and involves a defect in the gene for beta-1,4-galactosyltransferase.
• Cooley syndrome: An inherited blood disorder involving abnormal production of red blood cells which causes serious anemia. It is a severe form of thalassemia.
• Corpus callosum agenesis: A very rare congenital abnormality where part or all of the fibers that connect the two halves of the brain (corpus callosum) are missing.
• 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 dysgenesis X-linked recessive: Partial or complete lack of development of the structure that divides two sides of the brain (corpus callosum). As the condition is X-linked, it only occurs in males.
• 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 dysplasia - focal epilepsy syndrome: Abnormal development of the brain cortex which results in focal epilepsy and progressive neurological deterioration once the epilepsy starts in early childhood.
• Cortical hyperostosis-syndactyly: A rare genetic disorder characterized by webbed fingers and thickening and overgrowth of bones.
• Corticotropin - Teratogenic Agent: There is evidence to indicate that exposure to Corticotropin 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.
• Costello syndrome: A rare genetic disorder characterized by papillomas which may become malignant.
• Cowden's syndrome: A rare hereditary condition characterized by multiple noncancerous nodules called hamartomas. Sufferers also face an increased risk of particular cancers.
• Crane-Heise syndrome: A very rare fatal disorder characterized by numerous abnormalities.
• Cranio-facio-cardio-skeletal dysplasia: A rare syndrome characterized by mental retardation, short stature, large skull, heart anomaly and facial and skeletal abnormalities.
• Craniodiaphyseal dysplasia: A very rare bone disorder where excess calcium is deposited mainly in the skull bones which can result in compression of various nerves in the skull and even the brain.
• Craniodiaphyseal dysplasia, autosomal dominant: A rare inherited syndrome characterized mainly by bone overgrowth and sclerosis or hardening which affects mainly the skull but other bones are often involved as well. Craniotubular dysplasia is a similar condition but involves more severe hyperostosis and sclerosis.
• Craniofacial conodysplasia: A rare disorder characterized by neurological symptoms and abnormally-shaped bones in the hands and feet. The neurological symptoms are caused by a buildup of fluid inside the skull as well as compression of the spinal cord at the neck-skull junction.
• Craniofaciocardioskeletal syndrome: A very rare syndrome characterized by facial, skull, heart and skeletal abnormalities.
• Craniometadiaphyseal dysplasia, wormian bone type: A rare syndrome characterized by various skeletal and skull anomalies.
• Craniometaphyseal dysplasia dominant type: A rare genetic disorder characterized by head and facial abnormalities as well as mild limb abnormalities. Increased cranial pressure can lead to further complications.
• Craniometaphyseal dysplasia, autosomal recessive type: A rare genetic disorder characterized by head and facial abnormalities as well as mild limb abnormalities. It is a milder form of the disease than the autosomal dominant type.
• Craniomicromelic syndrome: A very rare syndrome characterized by skull and facial abnormalities, short arms and legs and retarded fetal growth.
• 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 - alopecia - brain defect: A very rare syndrome characterized mainly by a malformed skull, lack of hair and a brain defect.
• Craniosynostosis, sagittal, with Dandy-Walker malformation and hydrocephalus: A very rare disorder characterized primarily by the premature fusion of skull bones (sagittal), the Dandy-Walker malformation and a buildup of fluid in the brain (hydrocephalus). The Dandy-Walker malformation is where a cyst develops in the back of the brain and interferes with the movement of fluid through the brain resulting in an accumulation of fluid.
• Craniotelencephalic dysplasia: A very rare syndrome characterized primarily by premature fusion of various skull bones and abnormal brain development.
• Craniotubular syndrome: A rare syndrome characterized mainly by bone overgrowth and sclerosis or hardening which affects mainly the skull but other bones are often involved as well. Craniodiaphyseal dysplasia is a similar condition but involves less severe hyperostosis and sclerosis.
• 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.
• Cysticercosis: An infectious disease caused by the pork tapeworm Taenia solium. If the larvae are ingested then a mild or asymptomatic tapeworm infection occurs. However, ingested eggs pass into the bloodstream where they can then enter various tissues and form the cysts that characterize cysticercosis.
• Czeizel syndrome: A rare lethal syndrome characterized by cleft palate, uterus abnormalities and omphalocele (protrusion of abdominal organs such as intestine through the navel).
• Czeizel-Losonci syndrome: A very rare syndrome characterized by missing fingers, ureter abnormalities, webvbed fingers and toes and abnormal spinal development.
• Daish-Hardman-Lamont syndrome: A very rare syndrome characterized mainly by loose joints, tall stature and buildup of fluid 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.
• Dandy-Walker malformation postaxial polydactyly: A very rare syndrome where the Dandy-Walker malformation is associated with extra fingers and toes.
• Dandy-Walker malformation with mental retardation, macrocephaly, myopia, and brachytelephalangy: A very rare syndrome characterized mainly by mental retardation, large head, short fingers, nearsightedness and brain abnormalities (Dandy-Walker type).
• 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) (q24-q25.3): A very rare chromosomal disorder where a portion of the long arm (q24-q25.3) of chromosome one is missing. The type and severity of symptoms is variable.
• Del(1) (q41-qter): A very rare chromosomal disorder where a portion of the long arm (q41-qter) of chromosome one is missing. The type and severity of symptoms is variable.
• Del(1q32): A very rare chromosomal disorder where a portion of the long arm (1q32) of chromosome one is missing.
• 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 22q13: A very rare chromosomal disorder where a portion of chromosome 22 is missing at the q13 location which results in various abnormalities.
• Deletion 2q24: A genetic disorder characterized by the deletion of a portion of the long arm of chromosome 2.
• 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.
• Desmoplastic cerebral astrocytoma of infancy: A rare type of brain tumor that occurs in infants. The tumor consists of cancerous astrocytes.
• Desmoplastic infantile ganglioma: A rare type of brain tumor that occurs in infants. The tumor may be slow-growing and benign or fast-growing and malignant.
• 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.
• Diaphragmatic hernia - exomphalos - corpus callosum agenesis: A very rare syndrome characterized mainly by a diaphragmatic hernia (defect in the diaphragm that allows some of the abdominal organs to move into the chest cavity), brain development abnormalities and deafness.
• Dicyclomine - Teratogenic Agent: There is evidence to indicate that exposure to Dicyclomine 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.
• Diflucan - Teratogenic Agent: There is evidence to indicate that exposure to Diflucan (an antifungal 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.
• Dimedrol - Teratogenic Agent: There is evidence to indicate that exposure to Dimedrol 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.
• Dinno-Shearer-Weisskopf syndrome: A very rare syndrome characterized mainly by long limbs, tall stature, large head, ataxia and facial anomalies.
• Diphenhydramine - Teratogenic Agent: There is evidence to indicate that exposure to Diphenhydramine 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.
• Dridol - Teratogenic Agent: There is evidence to indicate that exposure to Dridol (an antinausea and 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.
• Droperidol - Teratogenic Agent: There is evidence to indicate that exposure to Droperidol (an antinausea and 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.
• Dropletan - Teratogenic Agent: There is evidence to indicate that exposure to Dropletan (an antinausea and 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.
• Dup (1) (q23-qter) and del (3)(pter-p25): A very rare chromosomal disorder where a portion of the long arm (q23-qter) of chromosome one and the short arm of chromosome 3 (pter- p25) is duplicated. In the reported case, the infant died soon after birth.
• Dup (1) (q32-qter) and del (3)(pter-p25): A very rare chromosomal disorder where a portion of the long arm (q32-qter) of chromosome one is duplicated and the short arm of chromosome 3 (pter-p25) is deleted.
• 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(1) (p22.1-p13.3): A very rare chromosomal disorder where a portion of the short arm (p22.1-p13.3) of chromosome one is duplicated. The type and severity of symptoms is variable.
• 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 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 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 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.
• Dysosteosclerosis: A rare inherited condition characterized by bone development abnormalities (excessive hardening of bone and flattened vertebrae), characteristic facial features. Excessive bone growth at the base of the skull can damage the optic nerves and affect vision.
• Dysostosis acral with facial and genital abnormalities: A very rare inherited disorder characterized by short stature and head, face, skeletal and genital abnormalities. The facial appearance is that of a two-month old fetus. The severity and range of symptoms is variable. This dominantly inherited form of Robinow syndrome tends to be milder than the recessive form.
• Ectodermal dysplasia - mental retardation - central nervous system malformation: A rare syndrome characterized by severe mental retardation, hypothyroidism, abnormal brain development and hair, teeth and nail abnormalities.
• Ectodermal dysplasia with natal teeth, Turnpenny type: A rare syndrome characterized mainly by missing teeth, sparse hair and dark velvety skin patches called acanthosis nigricans. The skin patches usually disappears during the second decade and may reoccur during pregnancy.
• Elattoproteus syndrome: A rare disorder involving a lack of growth of various parts of the body such as the skin and the fatty layer under the skin.
• 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.
• Encephalocele anterior: Protrusion of a portion of the brain tissue through a skull defect in the anterior portion of the skull. The severity of symptoms depends on the exact location and size of the deformity.
• Encephalocele frontal: Protrusion of a portion of the frontal brain tissue through a skull defect. The severity of symptoms depends on the exact location and size of the deformity.
• Encephaloceles: Improper protrusions of parts of the meninges and brain.
• Endodermal sinus tumor: A form of malignant germ cell tumor that occurs mainly in young children. They can occur in the testis, ovaries, uterus, abdomen, thorax, tailbone region, vagina, liver, retroperitoneum and pineal ventricle of the brain. Symptoms will vary depending on the exact location of the tumor.
• Enlarged forehead: An increase in the size of a persons forehead anatomically
• Ependymoma: A tumor that occurs in the central nervous system (brain and spinal cord). Symptoms vary according to the aggressiveness, size and exact location of the tumor.
• 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.
• Epileptic encephalopathy, Lennox-Gastaut type: A rare genetic disorder characterized by mental retardation and physical anomalies. The brain condition is progressive and results in loss of previously acquired skills.
• Epimetaphyseal skeletal dysplasia: A rare syndrome characterized mainly by abnormal bone development.
• Ergotamine - Teratogenic Agent: There is evidence to indicate that exposure to Ergotamine 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.
• 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.
• Escobar syndrome, type B: A rare genetic disorder characterized by a pursed mouth, creased tongue, eye anomalies and a curved spine.
• Ethisterone - Teratogenic Agent: There is evidence to indicate that exposure to Ethisterone 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.
• Ethosuximide - Teratogenic Agent: There is evidence to indicate that exposure to Ethosuximide (antiseizure 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.
• Extradural hematoma: Bleeding in the skull outside the brain
• 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.
• Face swelling: Swelling affecting the face
• Faciooculoacousticorenal syndrome: A very rare syndrome characterized by facial, eye, ear and kidney abnormalities.
• 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.
• Famotidine - Teratogenic Agent: There is evidence to indicate that exposure to Famotidine (used to treat and prevent ulcers) 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.
• Faye-Petersen-Ward-Carey syndrome: A very rare syndrome characterized by excess fluid in the skull, a blood disorder and bone and bone abnormalities.
• Fetal ricin syndrome: A condition that occurs in infants born to mothers who consumed castor oil seeds (Ricinus communis) as a form of contraception.
• Fluconazole - Teratogenic Agent: There is evidence to indicate that exposure to Fluconazole (an antifungal 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.
• Flucytosine - Teratogenic Agent: There is evidence to indicate that exposure to Flucytosine (an antifungal 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.
• Fluorouracil - Teratogenic Agent: There is evidence to indicate that exposure to Fluorouracil (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.
• Fried syndrome: A rare syndrome characterized mainly by mental retardation, buildup of fluid inside the skull and an unusual facial appearance. The disorder is inherted in a X-linked manner.
• Frontonasal dysplasia - phocomelic upper limbs: A very rare syndrome characterized mainly by short arms, facial anomalies and various other abnormalities.
• Fryns macrocephaly: A rare syndrome characterized by a large head, seizures, spasticity, weakness and unusual facial appearance.
• 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.
• Ganglioglioma: A type of tumor that develops in the central nervous system. The tumor originates from glial and nerve cells. The tumor may grow rapidly and symptom will vary depending on the exact location and size of the tumor.
• Gigantism: Gigantism refers to abnormally high linear growth due to excessive action of insulin-like growth factor-I (IGF-I) while the epiphyseal growth plates are open during childhood.
• Gigantism partial - nevi - hemihypertrophy - macrocephaly: A rare genetic disorder characterized by overgrowth of bones, fatty tissues and skin in various parts of the body.
• Gingival fibromatosis - facial dysmorphism: A rare syndrome characterized by the association of thickened gums with unusual facial appearance.
• Gliomatosis cerebri: A rare, aggressive type of malignant brain tumor. Cancerous glial cells infiltrate various parts of the brain and can result in a variety of symptoms.
• Gliosarcoma: A type of brain tumor that originates from glial cells. The tumor may grow rapidly and symptom will vary depending on the exact location and size of the tumor.
• 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.
• Glutaric aciduria 2: A metabolic disorder involving an enzyme deficiency - electron transfer flavoprotein ubiquinone oxydoreductase. The severity of symptoms depends on the level of deficiency. The infant onset form is the most severe and often results in death. Severe cases usually develop during childhood or infancy and usually involve metabolic acidosis and its associated symptoms. Milder cases may simply present with muscle weakness initially that develops in adulthood. Some cases may involve additional symptoms such as heart, liver and kidney problems, facial anomalies and genital abnormalities.
• Glutaric aciduria type II: A rare disorder of amino acid metabolism characterized by a defect in the enzyme ETF (electron transfer flavenoid) or ETF dehydrogenase. The condition causes variable symptoms.
• Glutaricaciduria type 1: A rare inherited metabolic disorder where a genetic mutation results in the deficiency of an enzyme called glutaryl-CoA dehydrogenase which is required to metabolise certain amino acids (lysine, hydroxylysine and tryptophan). Problems occur when these metabolites build up in the body and cause neurological problems. Symptoms often develop following an acute infection or fasting. The severity of the condition is highly variable from development of neurological symptoms during infancy to asymptomatic adults. The degree of enzyme deficiency will usually determine the severity.
• 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.
• Glycine synthase deficiency, type 1: A rare genetic disorder characterized by high blood glycine levels. It is caused by a defect in the P protein (pyridoxal phosphate-dependent glycine decarboxylase) in the energy creating center of cells (mitochondria).
• Glycine synthase deficiency, type 2: A rare genetic disorder characterized by high blood glycine levels. It is caused by a defect in the T protein (tetrahydrofolate-requiring enzyme) in the energy creating center of cells (mitochondria).
• Greig Cephalopolysyndactyly Syndrome: A rare genetic disorder characterized by premature closing of skull bones and craniofacial abnormalities, finger and toe abnormalities.
• HARD syndrome: A rare genetic disorder characterized by a smooth brain surface and eye, genitourinary and other abnormalities.
• HARD syndrome (Hydrocephalus - agyria - retinal dysplasia): A rare genetic disorder characterized by a smooth brain surface and eye, genitourinary and other abnormalities.
• Hajdu-Cheney Syndrome: A rare genetic disorder characterized by early tooth loss, relaxed joints, small stature and bone abnormalities.
• Head injury: Any injury that occurs to the head
• Head symptoms: Symptoms affecting the head or brain
• Hemangioblastoma: A benign tumor that tends to occur in the central nervous system such as the brain and spinal cord. The tumor arises from the stem cells that develop into blood vessels or blood cells (hemangioblasts). Symptoms vary depending on the exact location and size of the tumor.
• Hemorrhagic shock and encephalopathy syndrome: A very rare severe condition characterized by sudden severe shock, brain disease and liver and kidney dysfunction which occurs in infants. The cause is unknown.
• Herbal Agent adverse reaction - Margosa oil: Margosa oil can be used as a herbal agent to treat parasitic infestations. The herbal agent contains various chemicals which can cause an adverse reaction in some people.
• Holoacardius amorphus: A very rare disorder where a twin in the womb doesn't have it's own heart. This second twin is often a very malformed, shapeless mass that acts as a parasite by utilizing the placenta of the normal twin.
• 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 - Skeletal Anomalies - Mental Disturbance: A very rare condition reported in only a few families and characterized by a buildup of fluid inside the brain, skeletal anomalies and mental disturbance.
• Hydrocephalus - costovertebral dysplasia - Sprengel anomaly: A rare syndrome characterized mainly by hydrocephaly and upwardly displaced shoulder blade (Sprengel anomaly).
• Hydrocephalus - craniosynostosis - bifid nose: A very rare disorder characterized mainly by a buildup of fluid inside the skull, premature fusion of skull bones and a bifid nose.
• 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.
• Hydrocephalus autosomal recessive: A rare, recessively inherited disorder where there is an abnormal buildup of fluid (cerebrospinal fluid) inside the skull.
• Hydrocephalus due to congenital stenosis of aqueduct of sylvius: A very rare disorder where there is a buildup of cerebrospinal fluid inside the skull due to a narrow canal that connects the third and fourth ventricles of the brain.
• Hydrocephalus obesity hypogonadism: A very rare syndrome characterized mainly by obesity, buildup of fluid inside the skull (hydrocephalus) and impaired sex hormone production.
• Hydrocephalus skeletal anomalies: A condition characterized by the association of hydrocephalus (buildup of fluid inside the brain) and skeletal anomalies.
• Hydrocephaly: A condition which is characterized by marked dilatation of the cerebral ventricles
• Hydrocephaly tall stature joint laxity: A very rare disorder characterized mainly by the association of excessive fluid in the skull (hydrocephaly), tall stature and loose joints. Various other anomalies may also be present.
• Hydrocephaly tall stature joint laxity and kyphoscoliosis: A very rare disorder characterized mainly by the association of excessive fluid in the skull (hydrocephaly), tall stature, loose joints and kyphoscoliosis. Various other anomalies may also be present.
• Hydroxychloroquine - Teratogenic Agent: There is evidence to indicate that exposure to Hydroxychloroquine (an antimalarial 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.
• Hydroxyprogesterone - Teratogenic Agent: There is evidence to indicate that exposure to Hydroxyprogesterone 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.
• Hydroxyzine - Teratogenic Agent: There is evidence to indicate that exposure to Hydroxyzine (an antihistamine) 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.
• Hypochondroplasia: A rare genetic disorder characterized by short stature which becomes more obvious during and after childhood.
• Hypomelanosis of Ito: A rare genetic neurocutaneous disorder characterized by unusual patterns of depigmented skin and associated disorders such as seizures, psychomotor retardation and eye abnormalities.
• Hypothalamic hamartomas: A benign congenital tumor that develops on or near the hypothalamus.
• 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).
• ICF syndrome: A very rare, recessively inherited syndrome characterized mainly by a weak immune system and facial anomalies.
• Inapsine - Teratogenic Agent: There is evidence to indicate that exposure to Inapsine (an antinausea and 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.
• Increased head circumference: increase in the normal size of the head
• Increased intracranial pressure: Increased pressure inside the skull due to brain swelling or fluid accumulation
• Indigo Carmine - Teratogenic Agent: There is evidence to indicate that exposure to Indigo Carmine 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.
• Infantile hypophosphatasia: An inherited bone disorder due to an inborn error of metabolism characterized by a deficiency of alkaline phosphate. The condition becomes noticeably during infancy and involves a period of normal development (about 6 months) followed by deterioration due to bone demineralization.
• 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.
• Infectious meningitis: Infectious meningitis is meningitis caused by bacterial, viral, or protozoan infection. Most of the agents known to cause meningitis are infectious, but very few people exposed to them will get meningitis. Those at greatest danger include people with AIDS, infants, transplant patients, and others whose immune systems may be compromised.
• Iniencephaly: A rare type of neural tube defect where the head is positioned in a backward bent angle and the spine is malformed.
• Intellectual deficit - cataracts - calcified pinnae - myopathy: A very rare syndrome characterized mainly by mental retardation, cataracts, muscle disease and calcified ear cartilage. The muscle wasting starts in the lower legs and eventually involves the small hand muscles.
• 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.
• Intracranial germ cell tumour: A brain tumor that arises from germ (sex) cells. This type of tumor tends to occur in patients under the age of 30, usually in the second decade. Symptoms depend on the size, exact location and rate of growth of the tumor.
• Iris coloboma, macrocephaly, agenesis of the corpus callosum, brachydactyly and mental retardation: A rare syndrome characterized mainly by a small head, brain anomaly, short digits, mental retardation and an eye defect.
• Isotretinoin - Teratogenic Agent: There is evidence to indicate that exposure to Isotretinoin (an acne treatment 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.
• 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.
• Jeune syndrome: A rare genetic disorder characterized by short limbs, underdeveloped iliac wings and a narrow rigid thoracic cage that often results in asphyxiation.
• 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 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.
• Kaler-Garrity-Stern syndrome: A very rare syndrome characterized mainly by osteopenia, mental retardation and sparse hair.
• Kenny-Caffey syndrome, Type 2: A very rare inherited skeletal disorder involving thickening of the long bones of the body and head abnormalities.
• Kernicterus: passage of bilirubin though the blood brain barrier
• Kleeblattschaedel syndrome: A very rare syndrome characterized mainly by a head the is somewhat cloverleaf shaped.
• Krause syndrome: A syndrome involving the abnormal development of the eye and cerebral portion of the brain. It most often occurs in premature infants or an infant from a multiple birth. It is believed to possibly result from intercurrent infections in the mother, placental abnormalities and hemorrhages that occur during the second trimester of the pregnancy.
• 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.
• Large head: When a person has a larger than average head
• Larsen syndrome, recessive type: A congenital, genetic disorder characterized by many abnormalities including joint dislocations, bone abnormalities and an unusual face.
• Lateral body wall complex: A very rare syndrome characterized involving the absence of the whole or part of an arm or leg as well as a severe defect of the abdominal wall. Death often occurs at birth.
• Le Marec-Bracq-Picaud syndrome: A very rare syndrome characterized mainly by a large head, short arms and clubfoot.
• Lethal chondrodysplasia, Moerman type: A very rare lethal syndrome characterized mainly by abnormal bone development.
• Lithium - Teratogenic Agent: There is evidence to indicate that exposure to Lithium 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.
• Liver failure: When the liver fails to function
• 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.
• Lockwood-Feingold syndrome: A rare genetic disorder characterized mainly by arthritis, skeletal abnormalities and a lack of subcutaneous fat.
• Lovastatin - Teratogenic Agent: There is evidence to indicate that exposure to Lovastatin 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.
• Lymphocytic choriomeningitis: Rodent-borne viral disease often causing meningitis or encephalitis
• Lysergic Acid Diethylamide - Teratogenic Agent: There is evidence to indicate that exposure to Lysergic Acid Diethylamide 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.
• MN1: A rare genetic defect that can cause meningiomas to develop. A meningioma is a tumor of the meninges which is a membrane that encloses the brain and spinal cord The genetic defect occurs on chromosome 22. The tumor is usually slow-growing and benign.
• MOMO syndrome: A very rare syndrome characterized mainly by a large size and weight at birth, a large head and eye abnormalities.
• Macrocephaly - mental retardation - facial dysmorphism: A rare syndrome characterized mainly by a large head, mental retardation and an unusual facial appearance.
• Macrocephaly - short stature - paraplegia: A rare syndrome characterized by a large head, short stature and spastic paraplegia.
• Macrocephaly mesodermal hamartoma spectrum: A rare syndrome characterized mainly by a large head and multiple lipomas and hemangiomas. The severity of the disorder is variable.
• Macrocephaly pigmentation large hands feet: An extremely rare condition characterized mainly by the association of an enlarged head, pigmentation anomalies and large hands and feet.
• Macrocephaly, benign familial: An enlarged head which tends to run in families and generally involves no mental or other problems.
• Macrocephaly, facial abnormalities, disproportionate tall stature and mental retardation: A rare syndrome characterized by tall stature, mental retardation, large head and facial abnormalities.
• Macrocephaly, mental retardation, short stature, spastic paraplegia and CNS malformations: A very rare syndrome characterized mainly by a large head, short stature and central nervous system problems.
• Macrocephaly, rhizomelia and conductive hearing loss: A rare syndrome characterized by a large head, short limbs and conductive hearing loss.
• Macrodactyly - Hemihypertrophy - Connective tissue nevi syndrome: A birth disorder characterized manily by large toes, large head, skin pigmentation anomaly and asymmetrical face and arm.
• Malignant astrocytoma: A very malignant primary brain tumor consisting of astrocytes. The tumor spreads throughout the brain and a third of patients dying in the first year.
• Malignant germ cell tumor: Malignant tumors that are made up of germ cells which are immature cells that eventually become reproductive system tissues in males and females. The symptoms depend on the location of the tumor which may occur in the ovaries, testes or anywhere along the body's midline such as the chest, head, abdomen, pelvis and lower back.
• Malignant rhabdoid tumors: An aggressive malignant tumor that occurs in children. Symptoms depend on the location of the tumor. The tumors often form in the kidneys and then tend to metastasize to the brain and sometimes the lungs. Symptoms will vary depending on the location of the tumor.
• Mannosidosis, alpha B lysosomal: A rare inherited metabolic disorder involving a deficiency of an enzyme (alpha-mannosidosase) which results in the accumulation of certain chemicals in the body which leads to progressive damage.
• Marie-Seé Syndrome: A sudden buildup of fluid inside the skull (hydrocephalus) in infants who are given large doses of vitamin A. Symptoms tend to occur about 12 hours after the receiving the vitamin A and usually last for a day or two.
• Meckel Syndrome: A rare genetic disorder involving numerous abnormalities and characterized by death within the first few weeks.
• Medulloblastoma: A type of brain tumor.
• 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.
• Megalencephaly - polymicrogyria - post-axial polydactyly - hydrocephalus: A rare syndrome characterized mainly by brain abnormalities, extra digits and a excess fluid inside the skull.
• Meningioma: A slow-growing tumor of the meninges that is not cancerous. Symptoms are determined by the size and location of the tumor.
• Meningitis: Infection of the membrane around the brain (as a symptom)
• Meningocele: A condition which is characterized by a protrusion of the meninges of the brain or spinal cord through a defect in the spinal cord
• Meningococcal A: Meningococcal meningitis is an infection that causes inflammation of the membranes covering the brain and spinal cord. Meningococcal meningitis A is caused by meningococcus A which is mostly common in hyperendemic areas in Africa known as the meningitis belt.
• Meningococcal C: Meningitis C is a strain of meningococcal meningitis, a bacterial infection of the membranes surrounding the brain and spinal cord.
• Meningococcal disease: Dangerous bacterial infection causing meningitis or bacteremia.
• 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.
• Meningomyelocele: A very rare developmental disorder where a part of the membrane that covers the spinal cord and part of the spinal cord itself protrudes through an abnormal opening in the bones of the spinal column. The condition may be asymptomatic or if the defect is large, severe neurological abnormalities may result.
• Mental retardation - macrocephaly - coarse facies - hypotonia: A very rare syndrome characterized mainly by mental retardation, large head, coarse face and reduced muscle tone.
• Mental retardation - short stature - cleft palate - unusual facies: A very rare syndrome characterized mainly by short stature, mental retardation, cleft palate and facial anomalies.
• Mental retardation cataracts calcified pinnae myopathy: A very rare syndrome characterized mainly by mental retardation, cataracts, muscle disease and calcified ear cartilage. The muscle wasting starts in the lower legs and eventually involves the small hand muscles.
• Mental retardation, Buenos Aires type: A very rare syndrome characterized mainly by mental retardation, physical retardation, unusual facial appearance and heart and kidney defects.
• Mental retardation, X-linked - macrocephaly - macro-orchidism: A rare disorder characterized by mental retardation, enlarged testes and a large head. Not all patients will exhibit all of these symptoms.
• Mental retardation, X-linked recessive - macrocephaly - ciliary dysfunction: A rare disorder characterized by mental retardation, large head and dysfunctional cilia. The cilia are tiny hairs that line the breathing airways and act to remove unwanted substances from building up and causing infection. The disorder is X-linked and hence only males exhibit the symptoms.
• Mental retardation, X-linked, 2: A rare form of mental retardation inherited in a X-linked manner. It occurs as a result of a defect on chromosome Xp22.3. Mental retardation was mild to moderate.
• Mental retardation, X-linked, 36: A rare form of mental retardation inherited in a X-linked manner. It occurs as a result of a defect in the ARX gene on chromosome Xp22.1-p21.1. Female carriers may present with varying degrees of mental retardation as well.
• Mental retardation, X-linked, 93: A rare form of mental retardation inherited in a X-linked manner. It occurs as a result of a defect in the BRWD3 gene. Female carriers may also suffer from some mental deficiency.
• Mental retardation, X-linked, 94: A rare form of mental retardation inherited in a X-linked manner. It occurs as a result of a defect in the GRIA3 gene on chromosome Xq25-q26.
• Mental retardation, macrocephaly, short stature and craniofacial dysmorphism: A very rare syndrome characterized by mental retardation, short stature, a large head and facial abnormalities.
• Metaphyseal dysostosis mental retardation conductive deafness: A rare, recessively inherited disorder characterized by mental retardation, deafness and skeletal abnormalities.
• Methotrimeprazine - Teratogenic Agent: There is evidence to indicate that exposure to Methotrimeprazine 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.
• 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.
• Metoclopramide - Teratogenic Agent: There is evidence to indicate that exposure to Metoclopramide 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.
• Micromelic bone dysplasia with cloverleaf skull: A rare disorder characterized by a cloverleaf skull deformity, small limbs and bone abnormalities of the chest and spine. The disorder is lethal.
• Microphthalmia, syndromic 7: A rare genetic disorder characterized by eye and skin abnormalities involving irregular red streaks of skin on the head and neck.
• Midline field defects: Congenital problems that occur along the vertical axis of the body. Defects can involve the brain, spine, heart, genitals and midline of the head and face.
• 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 8q12 21: A very rare chromosomal disorder where a portion of chromosome 8q is missing. The main symptoms include eye, ear and kidney abnormalities as well as mental retardation.
• Moore Smith Weaver syndrome: A very rare syndrome characterized by bowed long bones, unusual skull appearance and wide-set eyes.
• 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 II: Disorder of mucopolysaccharide metabolism in juveniles.
• Mucopolysaccharidosis Type III: A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans). This occurs due to there being not enough of the enzyme called N-acetyl-alpha-glucosaminidase (B) which is needed to break down the mucopolysacharides. The mucopolysaccharides are then deposited in various tissues.
• Mucopolysaccharidosis VII: Disorder of mucopolysaccharide metabolism.
• 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 2 Hunter syndrome- severe 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 3: A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans). This occurs due to there being not enough of the enzyme called N-acetyl-alpha-glucosaminidase (B) which is needed to break down the mucopolysacharides. The mucopolysaccharides are then deposited in various tissues.
• 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 I Hurler/Scheie 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.
• Muscular dystrophy - white matter spongiosis: A very rare syndrome characterized mainly by muscle problems, seizures and mental retardation.
• 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).
• N-acetyl-alpha-glucosaminidase sulfamidase deficiency: A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans). This occurs due to there being not enough of the enzyme called N-acetyl-alpha-glucosaminidase sulfamidase which is needed to break down the mucopolysacharides. The mucopolysaccharides are then deposited in various tissues.
• 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.
• Nalidixic Acid - Teratogenic Agent: There is evidence to indicate that exposure to Nalidixic 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.
• Nasopharyngeal teratoma with Dandy-Walker - diaphragmatic hernia: A very rare syndrome characterized mainly by a nasopharyngeal tumor, diaphragmatic hernia and the Dandy-Walker anomaly (brain cyst).
• Neomycin - Teratogenic Agent: There is evidence to indicate that exposure to Neomycin 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.
• Neonatal bacterial meningitis: Bacterial meningitis that occurs in an infant under 3 months of age. Bacterial meningitis is a bacterial brain infection.
• 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.
• Neural tube defect: Any defect that occurs to the neural tube
• Neurocutaneous melanosis: A rare genetic disorder characterized by melanosis of the skin and central nervous system deterioration.
• Neurocysticercosis: Brain/CNS infection with the tapeworm Cysticercosis
• Neuroectodermal tumor, primitive: A very rare type of tumor that occurs in children under the age of ten. It is very aggressive and has a poor prognosis with less than half of patients surviving. The tumor originates from primitive nerve cells in the brain (CNS PNET) or other parts of the body (peripheral PNET). CNS tumors can be further divided into infratentorial tumors (e.g. medulloblastoma) or supratentorial tumors. The tumors usually cause no symptoms in the early stages and the symptoms that do develop will vary depending on the exact location and size of the tumor.
• Neuroectodermal tumors primitive: A type of brain tumor that consists of small round cells and is believed to originate from primitive nerve cells in the brain. Symptoms are determined by the exact location of the tumor.
• Neurofibromatosis Type 1 (NF-1): Neurofibromatosis Type 1 is a genetic disorder often leading to the development of nerve tumors. The condition is also characterized by skin pigmentation abnormalities.
• Neurofibromatosis syndrome: A rare genetic disorder characterized by areas of increased and decreased skin pigmentation and the development of many non-cancerous nerve and skin tumors some of which may eventually become malignant.
• Neurofibromatosis syndrome Type II: A rare genetic disorder characterized by areas of increased and decreased skin pigmentation, acoustic neuromas and the development of many noncancerous nerve and skin tumors some of which may eventually become malignant - it is a more severe form of type I neurofibromatosis.
• Neurofibromatosis-2: Genetic disorder often leading to tumors on nerves.
• Neurosyphilis: Syphilis affecting the nervous system.
• Nevoid basal cell carcinoma syndrome: A rare genetic disorder characterized by basal cell carcinomas, broade face and rib abnormalities.
• Nitrofurantoin - Teratogenic Agent: There is evidence to indicate that exposure to Nitrofurantoin 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.
• Norethindrone - Teratogenic Agent: There is evidence to indicate that exposure to Norethindrone 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.
• Nytol - Teratogenic Agent: There is evidence to indicate that exposure to Nytol 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.
• OSMED, Homozygous: A very rare condition characterized mainly by bone malformations, hearing loss and facial anomalies.@
• 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.
• Oligodendroglioma: Slow-growing brain tumor
• Opsismodysplasia: A rare disorder where abnormal bone development results in skeletal abnormalities such as short stature, short limbs and facial abnormalities.
• 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.
• Ossified Ear cartilages with Mental deficiency, Muscle Wasting and Bony Changes: A very rare syndrome characterized mainly by mental retardation, cataracts, muscle disease and calcified ear cartilage. The muscle wasting starts in the lower legs and eventually involves the small hand muscles.
• 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 2: A rare lethal form of the genetic connective tissue disorder characterized by fragile bones, blue sclerae and facial and tooth abnormalities.
• Osteogenesis imperfecta, type 2A: A rare lethal form of a genetic connective tissue disorder characterized by fragile bones, blue sclerae and facial and tooth abnormalities. Type IIA has a different origin of the genetic mutation but the clinical features are similar. Type IIA involves a defect on the COL1A2 gene. The main difference is that type IIA tends to involve a large head and dark blue eyes.
• 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.
• Osteogenesis imperfecta, type IIB: A rare, recessively inherited, lethal form of a genetic connective tissue disorder characterized by fragile bones, blue sclerae and facial and tooth abnormalities. Type IIB has a different origin of the genetic mutation but the clinical features are similar. Type IIB involves a defect on the CRTAP gene on chromosome 3p22. The main difference is that type IIA tends to involve a small head and white or light blue eyes.
• Osteopathia striata, cranial sclerosis: A rare disorder characterized by striations along most long bones as well as increased bone density in the skull which is associated with various craniofacial defects.
• 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.
• Osteoporosis - macrocephaly - blindness - joint hyperlaxity: A very rare syndrome characterized mainly by mental retardation, osteoporosis, blindness and a large head.
• Osteoporosis - macrocephaly - mental retardation - blindness: A very rare syndrome characterized mainly by mental retardation, osteoporosis, blindness and a large head.
• Oto-spondylo-megaepiphyseal dysplasia, autosomal recessive: A very rare condition characterized mainly by bone malformations, hearing loss and facial anomalies.@
• Oto-spondylo-megaepiphyseal dysplasia, homozygous: A very rare condition characterized mainly by bone malformations, hearing loss and facial anomalies.@
• Otospondylomegaepiphyseal dysplasia: A rare genetic disorder where abnormal bone growth causes hearing loss, skeletal abnormalities and characteristic facial features.
• PTEN Hamartoma Tumor Syndrome: PTEN Hamartoma Tumor Syndrome is a group of conditions caused by a mutation in the PTEN gene. The primary characteristic of the condition is the development of multiple hamartomas (tumor-like growth) in virtually any part of the body. The growths are generally not cancerous but patients often have an increased risk of developing various cancers. Specific conditions covered by this term are Cowden syndrome, BAnnayan-Riley-Ruvalcaba Syndrome and Proteus syndrome.
• 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.
• Paget's disease of bone: A chronic, slowly progressing bone disorder where the bone is destroyed rapidly and replaced by abnormal bone which is dense and fragile.
• Paget's disease, type 1: A chronic, slowly progressing bone disorder where the bone is destroyed rapidly and replaced by abnormal bone which is dense and fragile. Type 1 is caused by a mutation on chromosome 6p21.3.
• Paget's disease, type 4: A rare disorder involving pigmentation and vascular abnormalities. The lesions usually involve large areas of the body and the pigmentation color can include pink, bluish and brown.
• Parkinsonism, early onset with mental retardation: An early onset form of Parkinson's disease as well as mental retardation.
• Parkinsonism, early-onset - mental retardation: An early onset form of Parkinson's disease as well as mental retardation.
• 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.
• Pectus excavatum macrocephaly dysplastic nails: A rare syndrome characterized mainly by a sunken chest, large head and abnormal nails.
• 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.
• Pepcid - Teratogenic Agent: There is evidence to indicate that exposure to Pepcid (used to treat and prevent ulcers) 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.
• Peroxisomal bifunctional enzyme deficiency: A rare disorder involving abnormal steroid metabolism due to an enzyme 17-beta-hydroxysteroid dehydrogenase 4) deficiency. The symptoms which make the condition appear very similar to another condition called neonatal adrenoleukodystrophy.
• Pfeiffer Syndrome Type I: A rare genetic disorder where some of the skull bones fuse too early which affects the size and shape of the skull and face. Thumb and toe abnormalities are also present. There are three types of Pfeiffer syndrome with varying degrees of severity. Type I is the mildest of the three Pfeiffer Syndrome subtypes.
• 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-Hirschfelder-Rott syndrome: A very rare syndrome characterized by facial and kidney anomalies and a type of dwarfism where the farthest parts of the limbs suffer the greatest degree of shortness.
• Pineal Teratoma: A type of brain tumor that occurs mainly in the pineal region of the brain.
• Pinealoma: A slow-growing type of brain tumor that occurs in the pineal gland. The pineal gland produces a hormone called melatonin which is involved in regulating sleep patterns.
• Pineoblastoma, adult: A rare type of highly malignant brain tumor that usually occurs in children. The tumor develops in the pineal region of the brain.
• Platyspondylic lethal chondrodysplasia: A rare genetic disorder involving abnormal bone development and flattened vertebral bones. The condition generally results in death before or soon after birth.
• Polydactyly visceral anomalies cleft lip palate: A rare syndrome characterized mainly by the association of extra digits, cleft lip and/or palate and visceral anomalies. Various other abnormalities may also be present.
• Porencephaly: A central nervous system disorder involving cysts in the brain cortex caused by stroke, infection or genetic anomaly.
• 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.
• Primrose Syndrome: A very rare syndrome characterized mainly by mental retardation, cataracts, muscle disease and calcified ear cartilage. The muscle wasting starts in the lower legs and eventually involves the small hand muscles.
• Progeroid syndrome, neonatal: A rare congenital condition characterized by poor growth, aged facial appearance, and mental retardation. Death occurs usually by 6 years of age.
• Progesterone - Teratogenic Agent: There is evidence to indicate that exposure to Progesterone 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.
• Proteus Syndrome: A rare genetic disorder characterized by overgrowth of bones, fatty tissues and skin in various parts of the body.
• Proteus like syndrome mental retardation eye defect: A very rare syndrome characterized mainly by mental retardation, eye defect and various growth abnormalities of the bone, skin and head.
• Pseudoaminopterin syndrome: A very rare condtion characterized by mental and physical retardation, skull abnormalities and skeletal defects. The symptoms observed are similar to those caused by aminopterin which was once used to induce abortions but in the pseudo form there is no evidence of exposure to aminopterin.
• Pseudophosphatasia: A rare condition where infants have all the physical features of infantile hypophosphatasia but alkaline phosphatase activity is normal.
• Pseudotumor Cerebri: A condition involving increased intracranial pressure which can produce symptoms similar to a brain tumor.
• Pyknoachondrogenesis: A very rare lethal syndrome characterized mainly by abnormal skeletal growth as well as abnormal bone calcification.
• Pyle disease: A rare genetic disorder characterized by numerous bone abnormalities as well as loss of vision and hearing.
• Quattrin mcpherson syndrome: A rare syndrome characterized mainly by a large mouth, developmental delay and an unusual facial appearance.
• Questran - Teratogenic Agent: There is evidence to indicate that exposure to Questran (cholesterol-lowering 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.
• Quinacrine - Teratogenic Agent: There is evidence to indicate that exposure to Quinacrine 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.
• Quinine - Teratogenic Agent: There is evidence to indicate that exposure to Quinine 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.
• Radiation induced meningioma: A type of brain tumor caused by exposure of the head region to radiation. Radiation is often used to treat a number of conditions, particularly cancer. The tumor can develop years or even decades after the exposure. Symptoms are determined by the exact location and size of the tumor.
• Radioulnar synostosis mental retardation hypotonia: A very rare syndrome involving mental retardation, reduced muscle tone and fusion of the forearm bones.
• Renal-hepatic-pancreatic dysplasia - Dandy Walker cyst: A very rare syndrome involving abnormal development of the kidneys, liver and pancreas as well as a brain cyst called a Dandy-Walker cyst.
• Retinoic Acid - Teratogenic Agent: There is evidence to indicate that exposure to Retinoic 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.
• Reye's syndrome: is a potentially fatal disease that causes numerous detrimental effects to many organs, especially the brain and liver
• Reynolds-Neri-Hermann syndrome: A very rare syndrome characterized mainly by heart defects, large head, developmental problems and facial and skin anomalies.
• Rhabdoid tumor: An aggressive malignant tumor that occurs in children. Symptoms depend on the location of the tumor. The tumors often form in the kidneys and then tend to metastasize to the brain and sometimes the lungs.
• Rhombencephalosynapsis: Abnormal development of the brain where the vermis of the cerebellum is partially or totally absent and the cerebellar hemispheres are joined together. The type and severity of symptoms depends on the severity of the abnormality - symptoms can range from mild ataxia to cerebral palsy and mental retardation. The condition is usually associated with various other abnormalities or syndromes.
• Rifampin - Teratogenic Agent: There is evidence to indicate that exposure to Rifampin 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.
• Rimbaud-Passouant-Vallat syndrome: A type of brain inflammation.
• Robinow syndrome, autosomal recessive: A rare genetic disorder characterized by a flat face, short forearms, vertebral anomalies and hypoplastic genitalia.
• Robinow syndrome, recessive form: A rare genetic disorder characterized by a flat face, short forearms, vertebral anomalies and underdeveloped genitals.
• Robinow-like syndrome: A very rare syndrome characterized mainly by
• Rokitansky Van Bogaert syndrome: A rare disorder characterized by pigmentation abnormalities of the skin and brain which causes various neurological symptoms as well as skin nevi.
• Rolland-Desbuquois syndrome: A condition characterized by dwarfism, hydrocephalus, facial abnormalities and a narrow chest. Survival is possible past infancy. The condition is a less severe form of Silverman-Handmaker syndrome which is lethal.
• Sabin-Feldman syndrome: A rare inherited disorder characterized by damage to brain tissue, chorioretinopathy (fluid build up under the retina) and mental retardation. The symptoms of this condition are similar to those of the parasitic infection called toxoplasmosis.
• Sakati syndrome: A rare genetic condition characterized by head and digital anomalies as well as other abnormalities.
• Sandhoff Disease: An inherited biochemical disorder involving a deficiency of the enzyme called hexosaminidase A&B which results in the harmful accumulation of chemicals in the central nervous system and other body tissues.
• Say-Carpenter syndrome: A very rare syndrome characterized mainly by wide set eyes, abnormally placed urethral opening in males and abnormal bone development.
• Schaefer-Stein-Oshman syndrome: A rare disorder where excessive growth and abnormal hardening affects the head and facial bones.
• 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.
• Schneckenbecken dysplasia: A very rare genetic disorder involving defective bone and cartilage development which causes cleft palate, short neck, short stature, unusual iliac shape and other bone abnormalities. The condition generally results in stillbirth or death soon after birth.
• Schwartz newark syndrome: A rare syndrome characterized by pigmentation anomaly, hydrocephaly, spina bifida and a myelomeningocele.
• Schwartz, Cohen-Addad, Lambert syndrome: A rare disorder characterized by increased pigmentation and a central nervous system malformation (myelomeningocele).
• Schwartz-Lelek syndrome: A rare disorder characterized mainly by bowed legs, knock knees and an enlarged head.
• Schwarz-Lélek syndrome: A syndrome characterized by various skeletal abnormalities.
• Sclerosteosis: A rare genetic disorder characterized by syndactyly and thickening and overgrowth of bone.
• Scoliosis as part of NF: Spinal curvature associated with a condition called neurofibromatosis. Roughly a quarter of patients with neurofibromatosis will develop scoliosis. Neurofibromatosis is a rare genetic disorder characterized by areas of increased and decreased skin pigmentation and the development of many benign nerve and skin tumors. The scoliosis may become severe enough to affect heart and lung function or may be relatively mild.
• Sengers-Hamel-Otten syndrome: A very rare syndrome characterized mainly by obesity, buildup of fluid inside the skull (hydrocephalus) and impaired sex hormone production.
• Seow-Najjar syndrome: A rare inherited disorder characterized by abnormal tooth enamel, cataracts and a brain abnormality. The brain abnormality involves a narrowed duct (aqueduct of Sylvius) which connects the third and fourth ventricle and allows brain and spinal fluid to pass through.
• Shaken Baby Syndrome: A condition caused by violent shaking of a baby.
• Short limb dwarf lethal, Mcalister Crane type: A very rare syndrome characterized mainly by short arms and legs and resulting in stillbirth or infant death.
• Short limb dwarfism, Al Gazali type: A very rare lethal disorder involving severe limb shortening and other skeletal deformities.
• Short stature - hyperkaliemia - acidosis: A very rare syndrome characterized mainly by short stature and metabolic abnormality.
• Short stature, Brussels type: A very rare syndrome characterized mainly by short stature.
• Silverman-Handmaker syndrome: A condition characterized by dwarfism, hydrocephalus, facial abnormalities and a narrow chest. The condition results in death during or soon after birth and is a more severe form of Rolland-Debuquois syndrome.
• Simpson-Golabi-Behmel syndrome: A rare genetic disorder characterized by accelerated growth and other defects.
• 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.
• Sjogren-Larsson syndrome: A rare inherited neurological and skin disorder characterized by mental retardation, spastic paraplegia and thickened scaly skin (ichthyosis). The condition involves a deficiency of fatty alcohol oxidoreductase which causes an accumulation of long-chain fatty alcohols.
• Sjögren-Larsson syndrome: A rare inherited neurological and skin disorder characterized by mental retardation, spastic paraplegia and thickened scaly skin (ichthyosis). The condition involves a deficiency of fatty alcohol oxidoreductase which causes an accumulation of long-chain fatty alcohols.
• Skeletal dysplasia, San Diego type: A very rare disorder characterized mainly by short limbs and flattened spinal vertebrae. Infants are stillborn or die soon after birth.
• 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.
• 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.
• Spina bifida: A congenital condition which is characterized by the abnormal closure of the vertebral arch
• Spinocerebellar ataxia - dysmorphism: A rare inherited syndrome characterized by ataxia and unusual facial appearance.
• Spinocerebellar ataxia-dysmorphism syndrome: A rare genetic disorder characterized by characteristic facial anomalies, ataxia, delayed psychomotor development and various skeletal deformities.
• Sponastrime dysplasia: A rare genetic disorder involving severe skeletal changes that results in short limbs, dwarfism and spinal and facial bone abnormalities.
• Spondyloepimetaphyseal dysplasia with multiple dislocations: A very rare syndrome characterized by abnormal bone growth and multiple joint dislocations.
• Spranger-Schinzel-Myers syndrome: A very rare syndrome characterized by brain malformation, underdeveloped fingers and bone abnormalities. It is believed to be possibly caused by exposure to ergotamine and diazoxide which may be teratogenic.
• Sturge-Weber Syndrome: A rare genetic disorder characterized by excessive blood vessel growth, calcium accumulation inside the brain and seizures.
• Subarachnoid hemorrhage: subarachnoid hemorrhage is bleeding in the area between the brain and the thin tissues that cover the brain. This area is called the subarachnoid space
• Subdural hematoma: A condition which is characterized by a blood clot beneath the dura mater
• Sucralfate - Teratogenic Agent: There is evidence to indicate that exposure to Sucralfate 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.
• Sulfasalazine - Teratogenic Agent: There is evidence to indicate that exposure to Sulfasalazine 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.
• Sulphasalazine - Teratogenic Agent: There is evidence to indicate that exposure to Sulphasalazine 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.
• Swelling symptoms: Symptoms causing swelling or enlargement.
• Symphalangism with multiple anomalies of hands and feet: A rare syndrome characterized mainly by fused finger and toe joints as well as other hand and foot anomalies.
• Systemic monochloroacetate poisoning: Monochloracetate acid is a dangerous chemical which can cause systemic poisoning even if only skin exposure occurs. Exposure to the chemical can be life-threatening with serious symptoms starting within hours of the exposure.
• Tay Sachs Disease: A condition which is causes GM2 gangliosidosis
• Tay-Sachs disease - juvenile onset: A rare inherited biochemical disorder involving the deficiency of an enzyme called Hexosaminidase A. There are two forms of the disease - juvenile and adult onset.
• Tetra-Amelia, Autosomal Recessive: A recessively inherited malformation syndrome characterized by absence of all four limbs. Various other malformations were also present.
• Thanatophoric dysplasia, type 1: A rare lethal genetic disorder characterized by severe skeletal abnormalities, flat vertebrae, large head and low nasal bridge.
• Thanatophoric dysplasia, type 2: A rare lethal genetic disorder characterized by severe skeletal abnormalities, flat vertebrae, large head and low nasal bridge.
• Thin ribs - tubular bones - dysmorphism: A very rare syndrome characterized mainly by thin ribs, narrow-shafted long bones and a large head.
• Tibial aplasia - ectrodactyly - hydrocephalus: A rare syndrome characterized mainly by a build up of fluid inside the skull (hydrocephaly), shin bone abnormalities and a split hand deformity.
• Tollner-Horst-Manzke syndrome: A very rare syndrome characterized by extra fingers, cleft lip, cleft palate and abdominal organ anomalies.
• Toxoplasmosis - Teratogenic Agent: There is strong evidence to indicate that the development of Toxoplasmosis 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.
• Transthyretin amyloidosis: Amyloidosis is a rare group of metabolic disorders where a protein called amyloid accumulates in body organs and tissues where it can cause damage. In the transthyretin form, the amyloid protein consists of transthretin. The condition is characterized by slo-progressing peripheral sensorimotor and autonomic neuropathy, kidney disease and heart disease. Abnormal amyloid deposits may also occur in the eyes and central nervous system. There are a number of subtypes of the disorder: familial oculoleptomeningeal amyloidosis, familial amyloid polyneuropathy and familial amyloid cardiomypathy as well as others. Neuropathic symptoms tend to start in the legs. Symptoms may vary depending on which parts of the body are affected.
• Tremor, hereditary essential, and idiopathic normal pressure hydrocephalus: An inherited disorder characterized by tremor and normal pressure hydrocephalus.
• Tretinoin - Teratogenic Agent: There is evidence to indicate that exposure to Tretinoin 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.
• Trigonomacrocephaly - tibial defect - polydactyly: A very rare syndrome characterized mainly by extra digits, a shin bone defect, enlarged head and a triangular shaped forehead protrusion.
• Triploid syndrome: A complete extra set of chromosomes.
• Tuberous sclerosis: A rare genetic disorder characterized by harmartomatous skin nodules, seizures, phakomata and bone lesions.
• Unusual facies, hypotonia, mental retardation and radioulnar synostosis: A very rare syndrome characterized by unusual facial appearance, reduced muscle tone, mental retardation and fused forearm bones.
• Unusual facies, macrocephaly, aplasia of corpus callosum, seizures, hypertrichosis, claw hands and overlapping fingers: A rare syndrome characterized mainly by a large head, unusual facial appearance, seizures, excessive hair growth, claw hands, overlapping fingers and abnormal brain structure.
• VACTERL association with hydrocephaly, X-linked: This condition is characterised by the occurrence of hydrocephalus with VACTERYL syndrome.
• 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).
• VACTERYL hydrocephaly: This condition is characterised by the occurrence of hydrocephalus with VACTERYL syndrome.
• 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.
• Van Regemorter Pierquin Vamos syndrome: A syndrome which is characterised by multiple congenital abnormalities
• 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.
• Vein of Galen aneurysm: A rare condition which is characterised by an aneurysm resulting from a intracranial vascular malformation
• Vogt-Koyanagi-Harada Syndrome: A rare condition characterized by poliosis and hair, skin, eye and ear abnormalities as well as retinal detachment and neurological involvement.
• Waaler Aarskog syndrome: A rare syndrome characterized mainly by hydrocephaly and upwardly displaced shoulder blade (Sprengel anomaly).
• Walker-Warburg Syndrome: A rare inherited disorder characterized by brain malformations and retinal and muscle abnormalities.
• 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
• Wyburn Mason's syndrome: A rare genetic condition mainly involving enlarged brain blood vessels and skin and eye abnormalities.
• X-linked hydrocephalus spectrum: A rare genetic disorder characterized by hydrocephalus, short flexed thumbs and mental deficiency.
• Zarontin - Teratogenic Agent: There is evidence to indicate that exposure to Zarontin (antiseizure 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.

Rate This Website

What do you think about the features of this website? Take our user survey and have your say:

Website User Survey

Medical Tools & Articles:

Next articles:

• Surveys
• Join in at the forums

Tools & Services:

• Bookmark this page
• Surveys relating to Swollen head
• Symptom Search
• Symptom Checker
• Medical Dictionary
• Give your feedback

Medical Articles:

• Disease & Treatments Search
• Misdiagnosis Center
• Full list of interesting articles

Forums & Message Boards

• Ask or answer a question at the Boards:
• I cannot get a diagnosis. Please help.
• Tell us your medical story.
• Share your misdiagnosis story.
• What is the best treatment for my condition?
• See all the Boards.

Enter your search terms Submit search form
Search The Web Search wrongdiagnosis.com

Common Health Mistakes

Symptom
Checker

Search Specialists by State and City