Glossary for Finger symptoms

Medical terms related to Finger symptoms or mentioned in this section include:

• $1q deletion$: A rare chromosomal disorder where part of the long arm (q) of chromosome 1 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
• $22q11.2 deletion syndrome$: A rare genetic disorder caused by the absence of a small portion of genetic material. A small section of chromosome 22 is missing at a location called q11.2. Chromosome 22 is one of 23 pairs of chromosomes that exist in humans.
• $2q deletion$: A rare chromosomal disorder where part of the long arm (q) of chromosome 2 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
• $3q deletion$: A rare chromosomal disorder where part of the long arm (q) of chromosome 3 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
• $46,XX chromosome 7 deletion p13$: A chromosomal disorder where a small portion of chromosome 7 is deleted which results in a range of abnormalities.
• $49,XXXXX syndrome$: A rare chromosomal disorder that affects only females and involves body cells having five copies of the X chromosome instead of the normal two.
• $49,XXXXY syndrome$: A rare sex chromosome abnormality where there are three extra copies of the X chromosome.
• ADULT syndrome: A rare syndrome characterized by nail abnormalities, abnormal teeth development, tear duct obstruction, pigmentation anomalies and hand and foot abnormalities.
• AREDYLD: A rare condition characterized by abnormalities of the extremities, teeth, hair, nail and kidney as well as lipoatrophic diabetes.
• ATRUS syndrome: A rare syndrome characterized by fusion of the forearm bones near the elbow and a blood disorder.
• Aarskog Syndrome: A rare genetic condition characterized by facial, hand, genital and growth abnormalities.
• Absence of tibia with polydactyly: The congenital absence of the tibial bone which is the shin bone as well as the presence of extra fingers.
• Absent patellae - scrotal hypoplasia - renal anomalies - facial dysmorphism - mental retardation: A rare syndrome characterized by absent kneecaps, underdeveloped scrotum, kidney anomalies, unusual facial appearance and mental retardation.
• Acetaminophen - Teratogenic Agent: There is strong evidence to indicate that exposure to Acetaminophen 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.
• Achondrogenesis: A type of dwarfism where the main limbs are short and the head and trunk are hydropic (contain an accumulation of clear fluid).
• Acidic dry cell batteries inhalation poisoning: Acidic dry cell batteries contain toxic chemicals which can cause symptoms if inhaled. The smoke emitted from burning batteries can also cause poisoning symptoms if sufficient quantities are inhaled. The type and severity of symptoms varies depending on the amount of chemical involved.
• Ackerman syndrome: An extremely rare condition characterized primarily by glaucoma, upper lip deformity and abnormal tooth roots.
• Acro coxo mesomelic dysplasia: A rare inherited form of dwarfism characterized mainly by shortening of the middle and end parts of the limbs.
• Acro-pectoro-renal field defect: A very rare genetic syndrome characterized by abnormalities of the genital and urinary systems as well as the absence of chest muscles at birth.
• Acro-reno-ocular syndrome: A disorder characterized by eye abnormalities, kidney defects and abnormalities of the arm and hand bones.
• 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.
• Acrocapitofemoral dysplasia: A rare inherited disorder characterized mainly by short limbs, dwarfism and cone-shaped epiphyses mainly in the hands and hips.
• Acrocephalopolydactyly: A rare genetic condition characterized by limb abnormalities, extra digits and hydrocephalus. Other additional symptoms are variably present.
• Acrocephalopolydactyly II: A rare genetic disorder characterized by head, hand and genital anomalies as well as mental retardation.
• Acrocephalopolysyndactyly, type 2 (ACPS 2): A rare genetic disorder characterized by premature closing of skull bones, craniofacial abnormalities, heart defects, growth retardation and other disorders.
• Acrocephalosyndactyly 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.
• Acrodermatitis, persistent: A rare chronic skin condition characterized by the eruption of pustules that usually occur on the ends of fingers
• Acrodysplasia scoliosis: A rare inherited genetic disorder characterized by short fingers and toes, scoliosis and other spine anomalies.
• Acrofacial dysostosis Rodriguez type: One of a group of disorders characterized by defective limb and facial development. The Rodriguez type is very rare and primarily involves severe limb and organ malformations.
• Acrofacial dysostosis, Palagonia type: One of a group of disorders characterized by defective limb and facial development. The Palagonia type is very rare and the symptoms are relatively mild.
• Acrofacial dysostosis, Weyers type: A rare disorder characterized by facial abnormalities and extra digits, nail abnormalities and short limbs.
• Acrofrontofacionasal dysostosis syndrome: A very rare syndrome characterized by abnormalities of the bones of the skeleton as well as mental retardation. Various facial, eye and urogenital anomalies are also present.
• Acromesomelic dysplasia: A rare genetic progressive skeletal disorder characterized by short limbs, a large head and lower thoracic kyphosis.
• Acroosteolysis neurogenic: A very rare inherited condition characterized mainly by the loss of all sensations - the lose the ability to feel pain, temperature and touch. The loss of sensation generally starts at the toes and fingers and spreads up the limbs and the trunk may also be involved in some cases.
• Acropectoral syndrome: A rare disorder characterized by extra fingers and toes, fusion of fingers and toes and anomalies involving the abdominal and chest wall.
• Acropectorovertebral dysplasia: A rare inherited genetic disorder characterized by abnormalities involving the fingers, toes, palate and chest bones.
• Acrorenal syndrome recessive: A rare, recessively inherited disorder characterized by the association of kidney and hand and foot abnormalities.
• Adams-Oliver Syndrome: A very rare inherited disorder characterized by scalp, skull and limb abnormalities. The range and severity of the symptoms can vary greatly from mild to severe.
• Adducted thumb syndrome recessive form: A rare recessively inherited disorder characterized mainly by a small head, arthrogryposis (joint contractures), cleft palate and various other abnormalities.
• Adducted thumbs - arthrogryposis, Christian type: A rare recessively inherited disorder characterized mainly by a small head, arthrogryposis (joint contractures), cleft palate and various other abnormalities.
• Al Awadi syndrome: A rare syndrome characterized primarily by severe malformations involving the limbs and pelvis.
• Al Awadi-Raas-Rothschild syndrome: A rare syndrome characterized primarily by severe malformations involving the limbs and pelvis. The exact type and severity of symptoms is variable. Most cases appear to occur in cases where the parents were related.
• Albright's hereditary osteodystrophy: A rare genetic disorder where the body fails to recognize and respond to the parathyroid hormone. The parathyroid hormone is involved in controlling the blood levels of calcium and phosphate.
• Albuterol - Teratogenic Agent: There is strong evidence to indicate that exposure to Albuterol 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.
• Allain Babin Demarquez syndrome: A rare syndrome characterized by premature fusion of skullbones, abnormal development of skeletal bones and hypertension.
• Alopecia mental retardation syndrome: A rare syndrome characterized primarily by a lack of hair and mental retardation.
• Alves Castelo dos Santos syndrome: A rare syndrome characterized by hair, eye, skin and spinal abnormalities.
• Amastia, bilateral, with ureteral triplication and dysmorphism: A very rare disorder characterized mainly by the absence of both breasts, triplicated ureters (normally they are duplicated), facial anomalies and various other defects.
• Amelo-onycho-hypohidrotic syndrome: A rare disorder characterized primarily by tooth and nail abnormalities and reduced sweating ability.
• 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.
• Amobarbital - Teratogenic Agent: There is strong evidence to indicate that exposure to Amobarbital during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Amphetamine - Teratogenic Agent: There is strong evidence to indicate that exposure to Amphetamine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Ampicillin - Teratogenic Agent: There is strong evidence to indicate that exposure to Ampicillin 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.
• Anemia: Reduced red blood cells in the blood
• Angel shaped phalangoepiphyseal dysplasia: A rare genetic bone development disorder characterized mainly by an unusual angel-shaped ends of some bones (fingers and hips) which leads to early osteoarthritis.
• Ankylosis - facial anomalies - pulmonary hypoplasia syndrome: A rare familial syndrome characterized mainly by fused or stiff joints, facial anomalies and underdeveloped lungs.
• Anonychia - microcephaly: A very rare syndrome characterized by the absence of nails and a small head.
• Anonychia - onychodystrophy: A rare birth malformation characterized by absent nails and dystrophic nails.
• Anonychia onychodystrophy brachydactyly type b: A rare, dominantly inherited disorder characterized abnormal or absent nails, permanently flexed fingers and a broad, finger-like thumb.
• Anonychia-onychodystrophy with brachydactyly type B and ectrodactyly: A rare, dominantly inherited disorder characterized abnormal or absent nails, missing fingers, permanently flexed fingers and a broad, finger-like thumb.
• Anophthalmia - hand and foot defects - mental retardation: A rare syndrome characterized mainly by mental retardation, hand and foot defects and absent eyes.
• Anophthalmia - megalocornea - cardiopathy - skeletal anomalies: A rare genetic syndrome characterized by absent or very small eyes, large corneas, congenital heart defects and skeletal abnormalities.
• Anophthalmia - short stature - obesity: A very rare syndrome characterized by absent eyes, short stature and obesity.
• Anophthalmos with limb anomalies: A rare disorder characterized by absent eyes
• Antley-Bixler Syndrome: A rare genetic disorder characterized by premature closing of skull bones, choanal atresia and craniofacial and limb abnormalities.
• Aphalangia - syndactyly - microcephaly: A very rare syndrome characterized by the absence of one or more bones of the fingers and toes, a small head and fusion of fingers.
• Aplasia cutis congenital - intestinal lymphangiectasia: A rare disorder characterized by a skin defect and dilated intestinal lymph vessels.
• Aplasia/hypoplasia of pelvis, femur, fibula, and ulna with abnormal digits and nails: A rare syndrome characterized by the underdevelopment or absence of the pelvis, thigh bone, shin bone and ulna (forearm bone) as well as digital and nail abnormalities.
• Arachnodactyly: Hands and fingers, and feet and toes, are abnormally long and slender.
• Arm symptoms: Symptoms affecting the arm
• Arterial occlusive disease, progressive - hypertension - heart defects - bone fragility - brachysyndactyly: A rare syndrome characterized by narrowing or blockage of a number of arteries (in the kidneys, abdomen, brain and heart) as well as fragile bones, heart defects and finger abnormalities. Fractures and high blood pressure often start during the first years of life.
• Arthritis-related enthesitis: Inflammation of the entheses due to arthritis. The enthuses is the site at which the tendon or ligament attaches to the bone.
• Arthrogryposis Distal: A form of arthrygryposis (congenital contractures) which tends to affect mainly the distal parts of limbs (hands and feet). The degree of limb involvement is variable.
• Arthrogryposis multiplex congenita - pulmonary hypoplasia: A rare congenital syndrome involving degeneration of the brain and spinal cord and characterized by facial, head, skeletal and muscular abnormalities. Reduced fetal activity causes many of the problems.
• Arthrogryposis multiplex congenita, distal type 1: A form of arthrygryposis (congenital contractures) which tends to affect mainly the distal parts of limbs (hands and feet). The degree of limb involvement is variable.
• Arthrogryposis multiplex congenita, distal, X-linked: A rare condition characterized by the presence of contractures at birth as well as various other anomalies. The condition is X-linked.
• Arthrogryposis, distal, type 2A: A form of distal arthrogryposis (joint contractures in ends of limbs) that involves additional symptoms such as facial and spinal anomalies.
• Arthrogryposis, distal, with hypopituitarism, mental retardation, and facial anomalies: A very rare syndrome characterized mainly by mental retardation, permanent flexion of fingers, low pituitary hormone level and facial anomalies.
• Asbestos conditions: Medical conditions caused be exposure to asbestos dust
• Atelosteogenesis Type III: A very rare inherited skeletal ossification disorder. Unlike types I and II, survival past infancy is possible in type III.
• Atropine - Teratogenic Agent: There is strong evidence to indicate that exposure to Atropine 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.
• Aureomycin - Teratogenic Agent: There is evidence to indicate that exposure to Aureomycin (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.
• 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.
• Azathioprine - Teratogenic Agent: There is strong evidence to indicate that exposure to Azathioprine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Baraitser burn fixen syndrome: A rare syndrome characterized mainly by skeletal abnormalities, a skin disorder and an expressionless face.
• Bardet-Biedl syndrome, type 1: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 1 is caused by a defect in chromosome 11q13.
• Bardet-Biedl syndrome, type 10: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 10 is caused by a defect in chromosome 12q.
• Bardet-Biedl syndrome, type 11: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 11 is caused by a defect in chromosome 9q33.1.
• Bardet-Biedl syndrome, type 12: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 12 is caused by a defect in chromosome 4q27.
• Bardet-Biedl syndrome, type 2: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 2 is caused by a defect in chromosome 16q21.
• Bardet-Biedl syndrome, type 3: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 3 is caused by a defect in chromosome 3p12-q13.
• Bardet-Biedl syndrome, type 4: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 4 is caused by a defect in chromosome 15q22.3.
• Bardet-Biedl syndrome, type 5: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 5 is caused by a defect in chromosome 2q31.
• Bardet-Biedl syndrome, type 6: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 6 is caused by a defect in chromosome 20p12.
• Bardet-Biedl syndrome, type 7: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 7 is caused by a defect in chromosome 4q27.
• Bardet-Biedl syndrome, type 8: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 8 is caused by a defect in chromosome 14q32.11.
• Bardet-Biedl syndrome, type 9: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 9 is caused by a defect in chromosome 7p14.
• Barnicoat-Baraitser syndrome: A rare syndrome characterized mainly by extra digits and excessive growth resulting in an increased birth weight and size.
• Basilar artery migraine: Basilar migraine (BM), also known as Bickerstaff syndrome, consists of headache accompanied by dizziness, ataxia, tinnitus, decreased hearing, nausea and vomiting, dysarthria, diplopia, loss of balance, bilateral paresthesias or paresis, altered consciousness, syncope, and sometimes loss of consciousness.
• Baughman syndrome: A rare syndrome characterized mainly by fused eyelids, curly hair and abnormal nails.
• Bd syndrome: A very rare syndrome characterized mainly by the association of mental retardation, small eyes and a movement disorder.
• Beals syndrome: A rare genetic connective tissue disorder characterized by joint contractures, arachnodactyly and a crumpled appearing ear.
• 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.
• Benazepril - Teratogenic Agent: There is strong evidence to indicate that exposure to Benazepril during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Bhaskar-Jagannathan syndrome: A very rare syndrome characterized primarily by long, thin fingers, amino acids in the urine, cataracts (during infancy), incoordination and delayed development.
• Biemond syndrome type 2: A rare inherited condition characterized by mental retardation, obesity, polydactyly and underdeveloped genitals.
• Bindewald-Ulmer-Muller syndrome: A rare syndrome characterized mainly by a heart defect, and mental and growth retardation.
• Blepharophimosis - ptosis - syndactyly - mental retardation: A rare genetic disorder characterized by eye anomalies, webbed fingers and mental retardation.
• Blepharophimosis ptosis esotropia syndactyly short: A rare disorder characterized by eye anomalies, webbed fingers and short stature.
• Blepharophimosis, ptosis, polythelia and brachydactyly: A rare syndrome characterized mainly by droopy eyelids, short digits, blepharophimosis and accessory nipples (polythelia).
• Blepharoptosis - cleft palate - ectrodactyly - dental anomalies: A rare genetic disorder characterized primarily by dental symptoms, opening in the roof of the mouth (cleft palate) and missing fingers giving the hands a claw like appearance.
• Blue nails: A condition which is characterized by the occurrence of nails that are blue in appearance
• Borrone-Di Rocco-Crovato syndrome: A rare progressive syndrome characterized by skin, heart and skeletal defects. Only several reported cases of the condition.
• Brachmann-De Lange Syndrome: A rare congenital disorder characterized by very small stature, synophrys, thin downturning upper lip and micromelia.
• Brachydactylous dwarfism, Mseleni type: A very rare syndrome characterized primarily by progressive joint disease, short stature and short fingers and toes. The joint disease affects mainly the hips, knees, ankles and spine. The condition can eventually lead to disability and hip and/or knee replacements in serious cases.
• Brachydactyly: Short fingers or toes relative to the other arm and legs.
• Brachydactyly - arterial hypertension: A rare syndrome characterized by the association of hypertension with short digits. Premature death (by the fifth decade) due to stroke occurs in untreated patients.
• Brachydactyly - dwarfism - mental retardation: A very rare syndrome characterized by short fingers, very short stature and mental retardation.
• Brachydactyly - elbow, wrist dysplasia: A very rare syndrome characterized by elbow and wrist abnormalities and short end bones of fingers.
• Brachydactyly - mesomelia - mental retardation - heart defects: A rare genetic disorder characterized by mental retardation, heart defects, short digits and short limbs.
• Brachydactyly - scoliosis - carpal fusion: A rare genetic disorder characterized by short fingers and toes, scoliosis (curved spine) and fused hand bones.
• Brachydactyly - small stature - face anomalies: A rare genetic disorder characterized by short stature, short fingers and toes and facial anomalies.
• Brachydactyly type A3: A hand malformation characterized by a short middle bone of the fifth finger and this finger usually bends towards the fourth finger.
• Brachydactyly type B: A form of finger deformity characterized by absent or underdeveloped end and middle bones of fingers and toes as well as absent or underdeveloped nails.
• Brachydactyly type C: A rare malformation characterized primarily by variable deformities involving the two sections closest to the hand of the second and third fingers.
• Brachydactyly, long thumb type: A rare digital anomaly characterized by short fingers and a long thumb.
• Brachydactyly, type B2: A rare dominantly inherited hand and foot malformation involving varying degrees of absence or underdevelopment of the ends of the fingers and toes as well as fusion of bones in the wrist and ankle.
• Brachymetapody, anodontia, hypotrichosis, albinoidism: A rare syndrome characterized by short foot bones, total absence of teeth, reduced amount of hair and lack of skin pigmentation.
• Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia: A rare syndrome characterized mainly by short digits, extra digits and a small or absent shin bone.
• Brachytelephalangy, characteristic facies, Kallmann: A very rare syndrome characterized primarily by very short end bones of fingers and facial anomalies.
• Brain malformation - congenital heart disease - postaxial polydactyly: A very rare syndrome characterized mainly by a brain defect, congenital heart disease and extra fingers.
• Brittle fingernails: A condition which is characterized by brittle fingernails
• Brittle nails: thinning of the nail plate
• Broken finger: Fracture of a finger bone
• Bromides - Teratogenic Agent: There is strong evidence to indicate that exposure to Bromides during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Bronchiolitis Obliterans - Ammonia inhalation: A lung disease caused by inhalation of Ammonia. The exposure can cause scarring of the lungs which can lead to obstruction of the small airways and ultimately impaired lung function. Chronic exposure can lead to gradual worsening of symptoms over a period of time. Acute exposure can result in lung damage that may be asymptomatic for a short period of time but can then lead to rapid death due to severe obstructive breathing problems. Severity of symptoms and outcome depend on degree of exposure.
• Bronchiolitis Obliterans - Chlorine inhalation: A lung disease caused by inhalation of Chlorine. The exposure can cause scarring of the lungs which can lead to obstruction of the small airways and ultimately impaired lung function. Chronic exposure can lead to gradual worsening of symptoms over a period of time. Acute exposure can result in lung damage that may be asymptomatic for a short period of time but can then lead to rapid death due to severe obstructive breathing problems. Severity of symptoms and outcome depend on degree of exposure.
• Bronchiolitis Obliterans - Diacetyl inhalation: A lung disease caused by inhalation of Diacetyl. The exposure can cause scarring of the lungs which can lead to obstruction of the small airways and ultimately impaired lung function. Chronic exposure can lead to gradual worsening of symptoms over a period of time. Acute exposure can result in lung damage that may be asymptomatic for a short period of time but can then lead to rapid death due to severe obstructive breathing problems. Severity of symptoms and outcome depend on degree of exposure.
• Bronchiolitis Obliterans - Hydrogen bromide inhalation: A lung disease caused by inhalation of Hydrogen bromide. The exposure can cause scarring of the lungs which can lead to obstruction of the small airways and ultimately impaired lung function. Chronic exposure can lead to gradual worsening of symptoms over a period of time. Acute exposure can result in lung damage that may be asymptomatic for a short period of time but can then lead to rapid death due to severe obstructive breathing problems. Severity of symptoms and outcome depend on degree of exposure.
• Bronchiolitis Obliterans - Hydrogen chloride inhalation: A lung disease caused by inhalation of Hydrogen chloride. The exposure can cause scarring of the lungs which can lead to obstruction of the small airways and ultimately impaired lung function. Chronic exposure can lead to gradual worsening of symptoms over a period of time. Acute exposure can result in lung damage that may be asymptomatic for a short period of time but can then lead to rapid death due to severe obstructive breathing problems. Severity of symptoms and outcome depend on degree of exposure.
• Bronchiolitis Obliterans - Hydrogen fluoride inhalation: A lung disease caused by inhalation of Hydrogen fluoride. The exposure can cause scarring of the lungs which can lead to obstruction of the small airways and ultimately impaired lung function. Chronic exposure can lead to gradual worsening of symptoms over a period of time. Acute exposure can result in lung damage that may be asymptomatic for a short period of time but can then lead to rapid death due to severe obstructive breathing problems. Severity of symptoms and outcome depend on degree of exposure.
• Bronchiolitis Obliterans - Hydrogen sulfide inhalation: A lung disease caused by inhalation of Hydrogen sulfide. The exposure can cause scarring of the lungs which can lead to obstruction of the small airways and ultimately impaired lung function. Chronic exposure can lead to gradual worsening of symptoms over a period of time. Acute exposure can result in lung damage that may be asymptomatic for a short period of time but can then lead to rapid death due to severe obstructive breathing problems. Severity of symptoms and outcome depend on degree of exposure.
• Bronchiolitis Obliterans - Methyl isocyanate inhalation: A lung disease caused by inhalation of Methyl isocyanate. The exposure can cause scarring of the lungs which can lead to obstruction of the small airways and ultimately impaired lung function. Chronic exposure can lead to gradual worsening of symptoms over a period of time. Acute exposure can result in lung damage that may be asymptomatic for a short period of time but can then lead to rapid death due to severe obstructive breathing problems. Severity of symptoms and outcome depend on degree of exposure.
• Bronchiolitis Obliterans - Nitrogen Oxide inhalation: A lung disease caused by inhalation of Nitrogen oxides. The exposure can cause scarring of the lungs which can lead to obstruction of the small airways and ultimately impaired lung function. Chronic exposure can lead to gradual worsening of symptoms over a period of time. Acute exposure can result in lung damage that may be asymptomatic for a short period of time but can then lead to rapid death due to severe obstructive breathing problems. Severity of symptoms and outcome depend on degree of exposure.
• Bronchiolitis Obliterans - Ozone inhalation: A lung disease caused by inhalation of v. The exposure can cause scarring of the lungs which can lead to obstruction of the small airways and ultimately impaired lung function. Chronic exposure can lead to gradual worsening of symptoms over a period of time. Acute exposure can result in lung damage that may be asymptomatic for a short period of time but can then lead to rapid death due to severe obstructive breathing problems. Severity of symptoms and outcome depend on degree of exposure.
• Bronchiolitis Obliterans - Phosgene inhalation: A lung disease caused by inhalation of Nitrogen oxides. The exposure can cause scarring of the lungs which can lead to obstruction of the small airways and ultimately impaired lung function. Chronic exposure can lead to gradual worsening of symptoms over a period of time. Acute exposure can result in lung damage that may be asymptomatic for a short period of time but can then lead to rapid death due to severe obstructive breathing problems. Severity of symptoms and outcome depend on degree of exposure.
• Bronchiolitis Obliterans - Polyamide-amine dyes inhalation: A lung disease caused by inhalation of Polyamide-amine dyes. The exposure can cause scarring of the lungs which can lead to obstruction of the small airways and ultimately impaired lung function. Chronic exposure can lead to gradual worsening of symptoms over a period of time. Acute exposure can result in lung damage that may be asymptomatic for a short period of time but can then lead to rapid death due to severe obstructive breathing problems. Severity of symptoms and outcome depend on degree of exposure.
• Bronchiolitis Obliterans - Sulphur dioxide inhalation: A lung disease caused by inhalation of Sulphur dioxide. The exposure can cause scarring of the lungs which can lead to obstruction of the small airways and ultimately impaired lung function. Chronic exposure can lead to gradual worsening of symptoms over a period of time. Acute exposure can result in lung damage that may be asymptomatic for a short period of time but can then lead to rapid death due to severe obstructive breathing problems. Severity of symptoms and outcome depend on degree of exposure.
• Bronchiolitis Obliterans - Thionyl chloride inhalation: A lung disease caused by inhalation of Thionyl chloride. The exposure can cause scarring of the lungs which can lead to obstruction of the small airways and ultimately impaired lung function. Chronic exposure can lead to gradual worsening of symptoms over a period of time. Acute exposure can result in lung damage that may be asymptomatic for a short period of time but can then lead to rapid death due to severe obstructive breathing problems. Severity of symptoms and outcome depend on degree of exposure.
• Brown nails: The occurrence of brown nails
• Brugsch's syndrome: A rare syndrome characterized by small hands and feet as well as thickened skin on the hands, feet, scalp and face.
• 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.
• Buerger's disease: Buergers's disease is a recurring inflammation and thrombosis (clotting) of small and medium arteries and veins of the hands and feet
• Bulimia nervosa: Eating disorder with binging (overeating) and purging (vomiting).
• Bullous dystrophy, macular type: A rare condition characterized by loss of scalp hair, increased skin pigmentation, small head, mental retardation, short stature and blisters. The blisters do not form necessarily on skin that has suffered trauma but occurs spontaneously.
• Buntinx-Lormans-Martin syndrome: A very rare syndrome characterized mainly by eye anomalies and fusion of the forearm bones.
• Buttiens-Fryns syndrome: A rare genetic disorder characterized by a small jaw, small mouth and defects involving the hands and feet.
• C-like syndrome: A rare disorder involving poor fetal growth, limb and facial defects and severe developmental delay.
• CAMFAK syndrome: A rare syndrome characterized by cataracts, small head, failure to thrive and spinal curvature.
• COPD: Severe obstruction of bronchial air flow typically from bronchitis and/or emphysema.
• Camera Costa Syndrome: Camera Costa syndrome refers to a reported case characterized by hand and finger malformations, hearing impairment and heart defect.
• Camera-Marugo-Cohen syndrome: A rare syndrome characterized mainly by mental retardation, muscle weakness, obesity and an asymmetrical body.
• Campomelia Cumming type: A rare syndrome characterized by limb and multiple abdominal organ abnormalities. The disorder results in death before birth or soon after.
• Camptobrachydactyly: A rare hand and foot abnormality where the fingers and toes are unusually short and the first part of the fingers or toes are held in a fixed contracted position.
• Camptodactyly: A flexion deformity of the finger where the finger is bent and unable to straighten.
• Camptodactyly - fibrous tissue hyperplasia - skeletal dysplasia: A rare syndrome characterized by a hand deformity and skeletal abnormalities.
• Camptodactyly - taurinuria: A rare disorder characterized by high urinary levels of taurine as well as a hand malformation.
• Camptodactyly syndrome, Guadalajara type 2: A rare syndrome characterized mainly by retarded fetal growth and permanently flexed finger (camptodactyly).
• Camptodactyly syndrome, Guadalajara type 3: A rare syndrome characterized mainly by retarded fetal growth and permanently flexed finger (camptodactyly).
• Camptodactyly syndrome, Guadalajara type III: A rare syndrome characterized mainly by a variety of defects including facial dysmorphism.
• Camptodactyly, fibrous tissue hyperplasia, and skeletal dysplasia: A rare syndrome characterized by a hand deformity and skeletal abnormalities.
• Camptodactyly, tall stature, and hearing loss syndrome: A rare syndrome characterized mainly by camptodactyly, tall stature and hearing loss. The hearing loss starts at birth or during infancy and progresses during childhood resulting in mild to severe hearing impairment.
• Captopril - Teratogenic Agent: There is strong evidence to indicate that exposure to Captopril during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Carbamazepine - Teratogenic Agent: There is strong evidence to indicate that exposure to Carbamazepine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Cardiac malformation: Any malformation or structural defect of the heart or it's structures. Some examples include atrioventricular septal defect, conotruncal malformations, transposition of great vessels and heart valve dysplasia. The symptoms vary in nature and severity depending on the type of malformation.
• Carnevale-Hernandez-Castillo syndrome: An extremely rare disorder characterized by missing digits or parts of digits and a thumb that has three bones like a finger instead of the normal two.
• Carnevale-Krajewska-Fischetto syndrome: A rare genetic disorder characterized by drooping eyelids, hip problems, undescended testes and developmental delay.
• Carpal Tunnel Syndrome: Hand or wrist problems; often from repetitive motion.
• Carpenter syndrome: A rare genetic disorder characterized by premature closing of skull bones, craniofacial abnormalities, heart defects, growth retardation and other disorders.
• Cartwright-Nelson-Fryns syndrome: A rare syndrome characterized by mental and physical retardation as well as nail and digital abnormalities.
• Casanthranol - Teratogenic Agent: There is evidence to indicate that exposure to Casanthranol (a laxative) 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.
• Cataract and congenital ichthyosis: A rare syndrome characterized by the presence of cataracts and a dry, scaly skin condition (ichthyosis) at birth or soon after.
• Cataract, alopecia, sclerodactyly: A rare disorder characterized by cataracts, lack of hair and skin changes in the hands and feet.
• 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.
• Cerebro oculo skeleto renal syndrome: A very rare syndrome characterized mainly by brain, eye, skeletal and kidney abnormalities.
• Cerebrorenodigital syndrome: A rare group of syndromes characterized mainly by brain, kidney, finger and toe abnormalities.
• Cerebrorenodigital syndrome with limb malformations and triradiate acetabula: A rare group of syndromes characterized mainly by brain, kidney, finger and toe abnormalities as well as an abnormal hip socket.
• Charcot-Marie-Tooth Disorder: Degeneration of limb muscles.
• Charlie M syndrome: A rare birth disorder characterized by facial abnormalities and malformed or missing parts of the ends of the arms and legs.
• Chemical poisoning - Asbestos: Asbestos is a chemical used in a wide range of materials: heat and sound insulation, wall and ceiling panels, pipe insulation, floor tiles, toasters, cements, brake pads, roofing materials and furnaces. 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.
• Chemke-Oliver-Mallek syndrome: A very rare syndrome characterized mainly by eye and finger and toe abnormalities.
• Chilblain: Skin inflammation usually in cold weather
• Chitayat Meunier Hodgkinson syndrome: A very rare syndrome characterized by face and finger abnormalities
• Chlordiazepoxide - Teratogenic Agent: There is evidence to indicate that exposure to Chlordiazepoxide (a sedative or hypnotic 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.
• 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.
• Chlorpromazine - Teratogenic Agent: There is evidence to indicate that exposure to Chlorpromazine (a neuroleptic 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.
• Chlortetracycline - Teratogenic Agent: There is evidence to indicate that exposure to Chlortetracycline (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.
• Chondrodysplasia punctata, Sheffield type: A rare genetic disorder characterized by bone anomalies, failure to thrive and unusual facial features. The bone anomalies consists of abnormal calcification in various parts of the body such as the feet, toes, ankle, tailbone, vertebrae, top of thigh, upper arm and laryngeal cartilage. The calcification abnormalities tend to resolve after within the first 5 years.
• Chondrodysplasia, Grebe type: A rare genetic disorder characterized by dwarfism and various limb deformities.
• Chondrodysplasia, type Nance-Sweeney: A very rare condition characterized mainly by bone malformations, hearing loss and facial anomalies.@
• Chondroectodermal dysplasia: An inherited skeletal dysplasia marked that results in short-limbed dwarfism, development of an extra finger as well as cardiovascular impairments. Also called Ellis-van Creveld syndrome.
• Christian-Demyer-Franken syndrome: A rare syndrome characterized mainly by mental retardation and skeletal abnormalities.
• Christianson Fourie syndrome: A very rare syndrome characterized mainly by hair and nail abnormalities.
• Chromosome 1, trisomy 1q32 qter: A rare chromosomal disorder where duplication of a portion of chromosome 1 causes various abnormalities such as retarded fetal growth, facial anomalies, mental retardation, stillbirth, heart defects and finger and toe abnormalities.
• Chromosome 1, uniparental disomy 1q12 q21: A rare chromosomal disorder where part or all of the short arm (p) of chromosome 1 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
• Chromosome 10 ring syndrome: A rare chromosomal disorder where genetic material from one or both ends of chromosome 10 is missing and the two broken ends have rejoined to form a ring. The resulting type and severity of symptoms is determined by the amount and location of genetic material missing.
• Chromosome 10, distal trisomy 10q: A rare chromosomal disorder where the distal portion of the long arm of chromosome 10 is duplicated so there is three copies of it instead of the normal two. The condition is characterized by drooping upper eyelid, short palpebral fissures and camptodactyly.
• Chromosome 10, trisomy 10p: A rare chromosomal disorder where there are three copies of the short arm (p) of chromosome 10 rather than the normal two resulting in various abnormalities. The type and severity of symptoms depend on the amount and location of genetic material duplicated.
• Chromosome 10p duplication syndrome: A rare chromosomal disorder where there are three copies of the short arm (p) of chromosome 10 rather than the normal two resulting in various abnormalities. The type and severity of symptoms depend on the amount and location of genetic material duplicated.
• Chromosome 10p duplication/10q deletion syndrome: A rare chromosomal disorder where a section of the short arm (p) of chromosome 10 is duplicated and a section of the long arm (q) of chromosome 10 is deleted resulting in various abnormalities.
• Chromosome 10p terminal deletion syndrome: A very rare syndrome caused by a chromosomal defect (10p terminal deletion) and can result in a variety of malformations that are similar to DiGeorge syndrome and velocardiofacial syndrome.
• Chromosome 12 ring syndrome: A rare chromosomal disorder where genetic material from one or both ends of chromosome 12 is missing and the two broken ends have rejoined to form a ring. The resulting type and severity of symptoms is determined by the amount and location of genetic material missing.
• Chromosome 12 trisomy: A rare chromosomal disorder where there are three copies of chromosome 12 rather than the normal two resulting in various abnormalities.
• Chromosome 12, 12p trisomy: A rare chromosomal disorder where there are three copies of the short arm (p) of chromosome 12 rather than the normal two resulting in various abnormalities. The type and severity of symptoms depend on the amount and location of genetic material deleted.
• Chromosome 12, Isochromosome 12p Mosaic: A very rare disorder genetic disorder involving abnormalities in chromosome 12. The severity of symptoms is variable and tends to include a wide range of defects and abnormalities.
• Chromosome 12, trisomy 12q: A rare chromosomal disorder where there are three copies of the long arm (q) of chromosome 12 rather than the normal two resulting in various abnormalities. In most cases, death occurs during infancy. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is duplicated.
• Chromosome 12p deletion: A rare chromosomal disorder where there is a deletion of the short arm (p) of chromosome 12 resulting in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is deleted.
• Chromosome 12p deletion syndrome: A rare chromosomal disorder where there is a deletion of the short arm (p) of chromosome 12 resulting in various abnormalities.
• Chromosome 12p duplication syndrome: A rare chromosomal disorder where there are three copies of the short arm (p) of chromosome 12 rather than the normal two resulting in various abnormalities. The type and severity of symptoms depend on the amount and location of genetic material deleted.
• Chromosome 12p 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 13 trisomy syndrome: A rare chromosomal disorder where there are three copies of chromosome 13 rather than the normal two resulting in various abnormalities. Most die within months and there are few survivors after 10 years.
• Chromosome 13q deletion: A rare chromosomal disorder where the long arm (q) of chromosome 13 is deleted resulting in various physical, neurological and developmental abnormalities. The type and severity of symptoms is determined by the amount and location of the deleted genetic material.
• Chromosome 13q deletion syndrome: A rare chromosomal disorder where the long arm (q) of chromosome 13 is deleted resulting in various physical, neurological and developmental abnormalities. The type and severity of symptoms is determined by the amount and location of the deleted genetic material.
• Chromosome 13q duplication syndrome: A rare chromosomal disorder where the long arm (q) of chromosome 13 is duplicated resulting in various physical, neurological and developmental abnormalities.
• Chromosome 14q, terminal deletion: A very rare syndrome caused by a deletion of a part of the material on chromosome 14 and resulting in various abnormalities such as mental retardation and short fingers.
• Chromosome 15 Ring: A rare chromosomal disorder where genetic material from one or both ends of chromosome 15 is missing and the two broken ends have rejoined to form a ring. The resulting type and severity of symptoms is determined by the amount and location of genetic material missing.
• Chromosome 15 inverted duplication: A rare chromosomal disorder involving an duplicated section of chromosome 15 which is reversed end-to-end resulting in various abnormalities.
• Chromosome 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 tetrasomy syndrome: A rare chromosomal disorder where there are four copies of a portion of the long arm of chromosome 15 instead of the normal two resulting in various abnormalities.
• 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 17 ring: A rare chromosomal disorder where genetic material from one or both ends of chromosome 17 is missing and the two broken ends have rejoined to form a ring. The resulting type and severity of symptoms is determined by the amount and location of genetic material missing.
• Chromosome 17, deletion 17q23 q24: A rare chromosomal disorder involving deletion of genetic material from the long arm of chromosome 17. The type and severity of symptoms are determined by the amount and location of the lost genetic material.
• Chromosome 17p, partial deletion: A rare chromosomal disorder involving deletion of genetic material from the short arm of chromosome 17. The type and severity of symptoms are determined by the amount and location of the lost genetic material.
• Chromosome 17p, partial duplication: A rare chromosomal disorder involving an extra copy of genetic material from the short arm of chromosome 17. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material.
• Chromosome 17q, partial duplication: A rare chromosomal disorder involving an extra copy of genetic material from the long arm of chromosome 17. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material.
• Chromosome 18 Ring: A rare chromosomal disorder where genetic material from one or both ends of chromosome 18 is missing and the two broken ends have rejoined to form a ring. The resulting type and severity of symptoms is determined by the amount and location of genetic material missing.
• Chromosome 18, Tetrasomy 18p: A rare chromosomal disorder where there are four copies of short arm of chromosome 18 instead of the normal two which results in various genital, kidney, digital, head and face abnormalities.
• Chromosome 18, trisomy 18q: A rare chromosomal disorder involving an extra copy of genetic material from the long arm of chromosome 18. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material.
• Chromosome 18q, partial deletion: A rare chromosomal disorder involving deletion of genetic material from the long arm of chromosome 18. The type and severity of symptoms are determined by the amount and location of the lost genetic material.
• Chromosome 19p duplication syndrome: A rare chromosomal disorder where the short arm of chromosome 19 is duplicated resulting in various abnormalities.
• Chromosome 1p deletion syndrome: A rare chromosomal disorder where part or all of the short arm (p) of chromosome 1 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
• Chromosome 1p duplication syndrome: A rare chromosomal disorder where a portion of the short arm (p) of chromosome 1 is duplicated so there is three copies of it rather than the normal two.
• Chromosome 1q deletion: A rare chromosomal disorder where part of the long arm (q) of chromosome 1 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
• Chromosome 1q duplication syndrome: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 1 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
• Chromosome 2, monosomy 2pter p24: A very rare chromosomal disorder where a portion of chromosome 2 is deleted resulting in a range of birth defects and abnormalities.
• Chromosome 2, monosomy 2q: A rare chromosomal disorder where part of the long arm (q) of chromosome 2 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
• Chromosome 2, monosomy 2q24: A genetic disorder characterized by the deletion of a portion of the long arm of chromosome 2.
• Chromosome 2, monosomy 2q37: A very rare chromosomal disorder where a part of the long arm of chromosome 2 is missing which results in various birth defects and abnormalities. The features of the disorder are determined by the exact size and location of the deletion.
• Chromosome 2, trisomy 2p: A rare chromosomal disorder where a portion of the short arm (p) of chromosome 2 is duplicated so there is three copies of it rather than the normal two.
• Chromosome 2, trisomy 2q: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 2 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
• Chromosome 20q duplication syndrome: A rare chromosomal disorder involving a duplication of the long arm (q) of chromosome 20 resulting in various physical and developmental abnormalities.
• Chromosome 21 monosomy: A rare chromosomal disorder where there is only one copy of chromosome 21 instead of the normal two leading to various abnormalities.
• Chromosome 21, tetrasomy 21q: A rare chromosomal disorder where there is four copies of the long arm of chromosome 21 instead of the normal two which results in various physical and mental anomalies.
• Chromosome 21q deletion syndrome: A rare genetic disorder where a portion of the genetic material from the long arm of chromosome 21 is missing. The symptoms or severity may vary somewhat between patients.
• Chromosome 22 Ring: A rare chromosomal disorder where genetic material from one or both ends of chromosome 22 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 22 monosomy syndrome: A rare chromosomal disorder where there is only one copy of chromosome 22 in the body cells instead of two which results in various physical and mental abnormalities.
• Chromosome 22 trisomy mosaic: A rare chromosomal disorder where three copies of chromosome 22 are present in some of the body's cells instead of the normal two. Severity of symptoms is determined by how many cells have the extra chromosomal material.
• Chromosome 22, monosome mosaic: A very rare chromosomal disorder where one copy of chromosome 22 occurs in some of the body's cells and results in various anomalies. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is deleted.
• Chromosome 22, monosomy mosaic: A very rare chromosomal disorder where one copy of chromosome 22 occurs in some of the body's cells and results in various anomalies.
• Chromosome 22, trisomy: A very rare disorder where there is an extra copy of chromosome 22 in all the body cells. The condition is usually fatal soon after birth or during the fetal stage.
• Chromosome 22q deletion: A rare genetic disorder where a portion of the genetic material from the long arm of chromosome 22 is missing. The symptoms or severity may vary somewhat between patients.
• Chromosome 22q deletion syndrome: A rare chromosomal disorder where the long arm of chromosome 22 is deleted resulting in various abnormalities.
• Chromosome 22q11.2 deletion syndrome: A rare genetic disorder caused by the absence of a small portion of genetic material. A small section of chromosome 22 is missing at a location called q11.2. Chromosome 22 is one of 23 pairs of chromosomes that exist in humans.
• Chromosome 2p deletion syndrome: A rare chromosomal disorder where part or all of the short arm (p) of chromosome 2 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
• Chromosome 2p duplication syndrome: A rare chromosomal disorder where a portion of the short arm (p) of chromosome 2 is duplicated so there is three copies of it rather than the normal two.
• Chromosome 2q duplication syndrome: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 2 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
• Chromosome 3, monosomy 3p: A rare chromosomal disorder where a portion of chromosome 3 is absent and is characterized by mental and growth deficiency, drooping upper eyelid and polydactyly.
• Chromosome 3, trisomy 3p: A rare chromosomal disorder where a portion of the short arm (p) of chromosome 3 is duplicated so there is three copies of it rather than the normal two.
• Chromosome 3, trisomy 3q: A rare chromosomal disorder where a portion of the long arm (q) of chromosome 3 is duplicated so there is three copies of it rather than the normal two. The condition is characterized by mental and growth deficiency, broad nose root and excessive hair growth.
• Chromosome 4 ring syndrome: A rare chromosomal disorder where the ends of chromosome 4 have been deleted and the two broken ends have rejoined to form a ring shape resulting in a range of symptoms determined by the size and location of the genetic deletion.
• Chromosome 4, trisomy 4p: A rare chromosomal disorder where a portion of chromosome four is duplicated so there is three copies of it instead of the normal two.
• Chromosome 5, trisomy 5q: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 5 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
• Chromosome 5p duplication syndrome: A rare chromosomal disorder where there are three copies of all or part of the short arm (p) of chromosome 5 rather than the normal two. The type and severity of symptoms is determined by the location and size of the genetic material duplicated.
• Chromosome 5p tetrasomy syndrome: A rare chromosomal disorder where there are four copies of the short arm (p) of chromosome 5 rather than the normal two copies.
• Chromosome 5q deletion syndrome: A rare chromosomal disorder where the long arm (q) of chromosome 5 is deleted resulting in various abnormalities.
• Chromosome 5q duplication syndrome: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 5 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
• Chromosome 6, monosomy 6p23: A very rare chromosomal disorder characterized by various abnormalities including mental retardation, facial, finger and toe anomalies as well as heart, skeletal and neurological problems.
• Chromosome 6, monosomy 6q: A rare chromosomal disorder where a part of the long arm (q) of chromosome 6 is deleted resulting in various abnormalities depending on the location and length of missing genetic material.
• Chromosome 6, partial trisomy 6q: Partial Trisomy 6q is a very rare genetic disorder where there are three copies of a portion of chromosome 6 in the cells of the body instead of the normal two. The range and severity of symptoms is variable.
• Chromosome 6, trisomy 6q: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 6 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
• Chromosome 6q deletion syndrome: A rare chromosomal disorder where a part of the long arm (q) of chromosome 6 is deleted resulting in various abnormalities depending on the location and length of missing genetic material.
• Chromosome 6q duplication syndrome: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 6 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
• Chromosome 7 deletion p21-p22.1: A chromosomal disorder where a small portion of chromosome 7 is deleted which results in a range of abnormalities.
• Chromosome 7, Partial Deletion of Short Arm: A rare chromosomal disorder where part of the short arm (p) of chromosome 7 is deleted resulting in various abnormalities which are determined by the size and location of the deleted portion.
• Chromosome 7, partial monosomy 7p: A rare chromosomal disorder where part of the short arm (p) of chromosome 7 is deleted resulting in various abnormalities which are determined by the size and location of the deleted portion.
• Chromosome 7, 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 7p deletion syndrome: A rare chromosomal disorder where part or all of the short arm (p) of chromosome 7 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
• Chromosome 7p duplication syndrome: A rare chromosomal disorder where there are three copies of all or part of the short arm (p) of chromosome 7 rather than the normal two. The type and severity of symptoms is determined by the location and size of the genetic material duplicated.
• 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 recombinant syndrome: A rare recombinant chromosomal disorder involving chromosome 8 which results in various abnormalities.
• Chromosome 8 trisomy syndrome: A rare chromosomal disorder where there are three copies of chromosome 8 rather than the normal two which results in various abnormalities.
• Chromosome 8, monosomy 8p: A rare chromosomal disorder involving deletion of genetic material from the short arm (p) of chromosome 8 resulting in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is deleted.
• Chromosome 8, mosaic trisomy: A very rare chromosomal disorder where there is an extra copy of chromosome 8 in some of the body's cells. Some cases with this chromosomal abnormality have no clinical symptoms. The presence of abnormalities in some cases is dependent on which body cells contain the chromosomal defect.
• Chromosome 8, trisomy: A rare chromosomal disorder where there are three copies of chromosome 8 rather than the normal two which results in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is duplicated.
• Chromosome 8, trisomy 8p: A rare chromosomal disorder where the short arm (p) of chromosome 8 is duplicated resulting in three copies instead of two. The type and severity of symptoms depends on the location and length of genetic material duplicated.
• Chromosome 8, trisomy 8q: A rare chromosomal disorder where the long arm (q) of chromosome 8 is duplicated resulting in variable abnormalities depending on the location and length of genetic material deleted.
• Chromosome 8p duplication syndrome: A rare chromosomal disorder where the short arm (p) of chromosome 8 is duplicated resulting in three copies instead of two. The type and severity of symptoms depends on the location and length of genetic material duplicated.
• Chromosome 8p inverted duplication syndrome: A rare chromosomal disorder involving the inverted duplication of the short arm (p) of chromosome 8 resulting in three copies of the genetic material instead of the normal two. The type and severity of symptoms is determined by the location and size of the duplication.
• Chromosome 8p mosaic tetrasomy: A rare chromosomal disorder where a part of the short arm of chromosome 8 is repeated four times in some of the body's cells instead of the normal two resulting in various abnormalities.
• Chromosome 8q deletion syndrome: A rare chromosomal disorder where a part of the long arm (q) of chromosome 8 is deleted resulting in various abnormalities depending on the location and length of missing genetic material.
• Chromosome 8q duplication syndrome: A rare chromosomal disorder where the long arm (q) of chromosome 8 is duplicated resulting in variable abnormalities depending on the location and length of genetic material deleted.
• Chromosome 9 trisomy syndrome: A rare chromosomal disorder where there are three copies of chromosome 9 in the body's cells instead of the normal two resulting in various abnormalities.
• Chromosome 9, Trisomy 9p (Multiple Variants): A rare chromosomal disorder characterized by mental retardation, head and face malformations and various other abnormalities.
• Chromosome 9, partial trisomy 9p: A very rare genetic disorder where a portion of the genetic material on the short arm (p) of chromosome 9 is duplicated which results in various abnormalities. The type and severity of symptoms varies depending on the size and location of the genetic material involved.
• Chromosome 9, trisomy: A rare chromosomal disorder where there are three copies of chromosome 9 in the body's cells instead of the normal two resulting in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is duplicated.
• Chromosome 9, trisomy 9p: A rare chromosomal disorder where a portion of the short arm (p) of chromosome 9 is duplicated so there is three copies of it instead of the normal two.
• Chromosome 9p tetrasomy syndrome: A rare chromosomal disorder where there is four copies of the short arm of chromosome 9 instead of the normal two resulting in various abnormalities.
• Chromosome 9q duplication syndrome: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 9 resulting in various abnormalities.
• Chromosome 9q duplication/chromosome 9p deletion syndrome: A rare chromosomal disorder where part of the long arm (q) of chromosome 9 is duplicated and part of the short arm (p) is deleted resulting in various abnormalities. These chromosomal abnormality occurs in only some of the body's cells (mosaicism).
• Chromosome diploid-triploid mosaicism syndrome: A rare chromosomal disorder involving chromosomal duplication, triplication and mosaicism.
• Chronic bronchitis: A condition which is characterized by the chronic inflammation of ones or more of the bronchi
• Chronic inflammatory demyelinating polyneuropathy: A rare disorder involving swelling of nerve roots and destruction of the protective layer around nerves. Severe symptoms can take up to a year or more to develop.
• Ciliary dyskinesia-bronchiectasis: A very rare disorder where the cilia fail to move. The cilia are tiny, hair-like structures found in the respiratory and ear passages and help to clear debris and mucus. The lack of ciliary movement can cause a lung disease called bronchiectasis where a build up of mucus causes infections and airway damage. The airways then become enlarged. The condition can become progressively worse with time and can result in serious breathing problems.
• Cleft lip - palate - ectrodactyly: A very rare syndrome characterized by a cleft lip and palate and missing fingers and toes.
• Cleft lip palate - oligodontia - syndactyly - pili torti: A very rare syndrome characterized by a cleft lip and palate, webbed fingers, missing teeth and hair abnormality (pili torti).
• Cleft palate - cardiac defect - genital anomalies - ectrodactyly: A very rare syndrome characterized by variable symptoms including cleft palate, heart defects, genital anomalies and hand and foot malformations.
• Cleft palate - heart disease - polydactyly - absent tibia: A rare syndrome characterized by a cleft palate, heart disease, extra digits and an absent shin bone.
• Cleft upper lip, median - cutaneous polyps: A rare birth disorder characterized mainly by a cleft in the upper lip, central nervous system tumors and skin polyps.
• Clinodactyly: Curving of the fifth finger towards the fourth finger.
• 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.
• Clomocycline - Teratogenic Agent: There is evidence to indicate that exposure to Clomocycline (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.
• Clotrimazole - Teratogenic Agent: There is evidence to indicate that exposure to Clotrimazole (an antifungal 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.
• Clouston syndrome: A rare genetic ectodermal disorder characterized by skin, hair, nail and eye abnormalities.
• Clubbed fingers: The proliferation of the soft tissue around the ends of fingers
• Clubbing of fingers: Clubbing is a thickening of the flesh under the toenails and fingernails which is associated to a number of diseases
• 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.
• Cold-induced sweating syndrome 2: A rare disorder characterized mainly by the inability to sweat in hot weather and excessive sweating on exposure to cold weather.
• Collins-Dennis-Clarke-Pope Syndrome: A very rare condition characterized by congenital hip dislocation, flattened facial appearance and congenital heart defects.
• Common ventricle: A congenital heart defect where the wall separating the two heart ventricles is completely missing.
• Compulsive finger picking: A form of obsessive compulsive disorder where a person compulsively picks at the skin on their fingers, especially around the nails. Sufferers can feel the pain they inflict on themselves but the feelings of gratification and stress relief prevent them from stopping. The severity and extent of damage to the skin is variable. Stress and anxiety can trigger the compulsive finger picking.
• Congenital arteriovenous shunt: A rare birth defect involving the abnormal passage of blood between arteries and veins. The range and severity of symptoms is determined by the number, size and location of the arteries and veins involved.
• Congenital brain dysgenesis due to glutamine synthetase deficiency: A rare genetic metabolic disorder characterized by a deficiency of the glutamine synthase enzyme. This results in a lack of glutamine in the serum, urine and brain and spinal fluid. The condition results in severe brain malformations and infant death within weeks of birth.
• Congenital cardiovascular malformations: The abnormal development of heart blood vessels. Specific examples of this condition includes hypoplastic left heart syndrome, coarctation and tricuspid atresia.
• Congenital disorder of glycosylation type 1H: 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 Ih is caused by a defect on chromosome 11pter-p15.5 and involves the gene for a particular enzyme (dolichyl-P-glucose:Glc-1-Man-9-GlcNAc-2-PP-dolichyl-alpha-3-glucosyltransferase).
• Conjugated estrogens - Teratogenic Agent: There is evidence to indicate that exposure to Conjugated estrogens 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.
• Conotruncal heart malformations: A rare group of heart defect involving the outflow tracts. Examples include truncus arteriosus, transposition of great arteries and tetralogy of Fallot. Obviously the symptoms will be determined by which specific defect is involved.
• Cormier Rustin Munnich syndrome: Deficiency of certain chemicals involved in the respiratory chain can result in various malformation depending on the chemical involved and the degree of deficiency.
• Cornelia de Lange syndrome 2: A very rare disorder involving delayed physical development and various malformations involving the head, face and limbs. Type 2 is not as severe as type 1 with some of the abnormalities not presenting until later in life or absent altogether. The range and severity of symptoms is variable.
• Corneodermatoosseous syndrome: A very rare syndrome characterized mainly by thick, scaly skin on the palms and soles, corneal changes and dental problems.
• Coronal synostosis, syndactyly and jejunal atresia: A very rare syndrome characterized mainly by webbed toes, blocked small intestine and premature fusion of certain skull bones (coronal).
• Corpus callosum agenesis - blepharophimosis - Robin sequence: A very rare syndrome characterized by abnormal brain development, various facial anomalies, heart defects and other symptoms.
• Corpus callosum agenesis - polysyndactyly: A rare syndrome characterized by skin and gastrointestinal defects, extra digits and skull and facial anomalies.
• 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 hyperostosis-syndactyly: A rare genetic disorder characterized by webbed fingers and thickening and overgrowth of bones.
• Costello syndrome: A rare genetic disorder characterized by papillomas which may become malignant.
• Coumarin Derivatives - Teratogenic Agent: There is evidence to indicate that exposure to Coumarin Derivatives during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Cranio osteoarthropathy: A very rare syndrome characterized by large fontanelles, joint problems and finger clubbing.
• Cranioacrofacial syndrome: A very rare syndrome characterized mainly by heart, hand, facial and skull anomalies.
• Craniodigital syndrome - mental retardation: A very rare syndrome characterized by webbed fingers and toes, mental retardation and skull and facial anomalies.
• Craniofrontonasal dysplasia: A rare genetic disorder mainly found in females and characterized by premature closing of skull bones and craniofacial and limb abnormalities.
• Craniomicromelic syndrome: A very rare syndrome characterized by skull and facial abnormalities, short arms and legs and retarded fetal growth.
• Craniosynostosis - brachysyndactyly of hands and absence of toes: A rare condition characterized mainly by premature fusion of skull bones, limb defects and a cleft lip or palate.
• Craniosynostosis Fontaine type: A very rare disorder characterized primarily by the premature fusion of skull bones, hand, foot and stomach anomalies and a brain malformation (bilateral periventricular nodular heterotopia).
• Craniosynostosis Philadelphia type: A rare disorder characterized primarily by the premature fusion of several skull bones as well as the incomplete separation of fingers and toes (syndactyly). The condition has been reported in five generations of one family.
• Crisponi syndrome: A very rare syndrome characterized by excessive muscle contractions in response to stimulus, claw hand, distinctive facial features and fever. Most patients die within months of birth due to complications of hyperthermia but some cases are slowly progressive with longer survival possible.
• Cromolyn Sodium - Teratogenic Agent: There is evidence to indicate that exposure to Cromolyn Sodium (an asthma preventer) 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.
• Crossed polydactyly: Hand and foot anomalies involving extra digits and webbing. This form is characterized by involvement of the outer part of the hand and the inner part of the feet e.g. extra fingers next to the smallest finger and extra big toes.
• Crossed polydactyly type 1: A birth defect where there is an extra big toe combined with and extra finger on the opposite side to the thumb or and extra thumb and an extra toe on the opposite side to the thumb. Webbing of various fingers and toes is also often present.
• Crossed polysyndactyly: A rare malformation characterized by an extra finger beside the small finger, duplication of the big toe and webbing of various fingers and toes.
• Cryptomicrotia - brachydactyly syndrome: A very rare syndrome characterized mainly by ear malformations and short fingers and toes.
• Cushing's symphalangism: A rare syndrome characterized by deafness and the fusion of joints in the middle of fingers and toes as well as fusion of hand and foot bones.
• 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.
• Cystic Fibrosis: Cystic fibrosis is a hereditary disease affecting the exocrine (mucus) glands of the lungs, liver, pancreas, and intestines, causing progressive disability due to multisystem failure.
• Czeizel-Losonci syndrome: A very rare syndrome characterized by missing fingers, ureter abnormalities, webvbed fingers and toes and abnormal spinal development.
• Dactylitis: Sausage shaped swelling of the fingers and the 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).
• De Quervains' disease: Inflammation of the tendons in the thumb which can be very painful. It can be caused by overuse of the thumb or wrist which can occur in activities such as knitting, skiing and lifting heavy objects. The condition primarily occurs in females aged 30 to 50 years.
• Deafness - onychodystrophy - osteodystrophy - mental retardation: A very rare inherited disorder involving deafness (D), onychodystrophy (O - nail malformation), osteodystrophy (O - bone malformation) and mental retardation (R).
• Deafness onychodystrophy dominant form: A rare dominantly inherited disorder characterized by deafness from birth, deformed nails and
• Deafness, congenital onychodystrophy, recessive form: A very rare inherited disorder involving deafness (D), onychodystrophy (O - nail malformation), osteodystrophy (O - bone malformation) and mental retardation (R).
• Declomycin - Teratogenic Agent: There is evidence to indicate that exposure to Declomycin (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.
• Declostatin - Teratogenic Agent: There is evidence to indicate that exposure to Declostatin (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.
• 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) (pter-p36.2): A very rare chromosomal disorder where the end portion of the short arm of chromosome one is missing. The type and severity of symptoms is variable.
• Del(1) (q25-q32): A very rare chromosomal disorder where a portion of the long arm (q25-q32) of chromosome one is missing. The range and severity of symptoms is variable.
• Del(1) (q25.2-q31.2): A very rare chromosomal disorder where a portion of the long arm (q25.2-q31.2) of chromosome one is missing.
• Deletion 10pter: A very rare syndrome caused by a chromosomal defect (10p terminal deletion) and can result in a variety of malformations that are similar to DiGeorge syndrome and velocardiofacial syndrome.
• Deletion 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 2q: A rare chromosomal disorder where part of the long arm (q) of chromosome 2 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
• Deletion 2q24: A genetic disorder characterized by the deletion of a portion of the long arm of chromosome 2.
• Deletion 3p: A rare chromosomal disorder where a portion of chromosome 3 is absent and is characterized by mental and growth deficiency, drooping upper eyelid and extra digits.
• Deletion 6q: A rare chromosomal disorder where a part of the long arm (q) of chromosome 6 is deleted resulting in various abnormalities depending on the location and length of missing genetic material.
• Deletion 8p: A rare chromosomal disorder involving deletion of genetic material from the short arm (p) of chromosome 8 resulting in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is deleted.
• Demeclocycline - Teratogenic Agent: There is evidence to indicate that exposure to Demeclocycline (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.
• Dermato-cardio-skeletal syndrome Borrone type: A rare progressive syndrome characterized by skin, heart and skeletal abnormalities.
• Dermatocardioskeletal syndrome, Boronne type: A very rare syndrome characterized mainly by thick skin, thick gums, acne, short fingers and a heart defect.
• Dermatomyositis: A muscle disease characterized by chronic muscle inflammation resulting in progressive muscle weakness and a characteristic rash.
• Dermatoosteolysis, Kirghizian type: A rare condition characterized by a variety of abnormalities including missing teeth, recurring skin ulceration, eye problems and nail symptoms.
• Dextroamphetamine - Teratogenic Agent: There is evidence to indicate that exposure to Dextroamphetamine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Dextrocardia-bronchiectasis-sinusitis: A genetic disorder characterized by sinusitis, bronchiectasis and situs inversus.
• Diabetic neuropathy: nerve damage which maybe motor, sensory and autonomic
• Diaphragmatic defect - limb deficiency - skull defect: A very rare syndrome characterized mainly by a defect in the diaphragm that allows some of the abdominal organs to move into the chest cavity, poor skull calcification and limb abnormalities involving missing or abnormal bones in the arms or legs.
• Dicoumarol - Teratogenic Agent: There is evidence to indicate that exposure to Dicoumarol during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Dicumarol - Teratogenic Agent: There is evidence to indicate that exposure to Dicumarol during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• 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.
• Dienestrol - Teratogenic Agent: There is evidence to indicate that exposure to Dienestrol (a synthetic form of Viagra) 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.
• Digitorenocerebral syndrome: A very rare syndrome characterized by numerous abnormalities involving the brain, kidneys, fingers, toes, nails and face as well as mental retardation and vision impairment.
• Dilor - Teratogenic Agent: There is evidence to indicate that exposure to Dilor (a bronchodilator) 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.
• Dincsoy-Salih-Patel syndrome: A very rare syndrome characterized mainly by a cleft lip and palate, brain abnormality, short limbs and genital abnormalities.
• Diphenadione - Teratogenic Agent: There is evidence to indicate that exposure to Diphenadione during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• 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.
• Diphenoxylate - Teratogenic Agent: There is evidence to indicate that exposure to Diphenoxylate (an antidiarrhea 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.
• Distal arthrogryposis syndrome: A rare genetic disorder characterized by congenital contractures and other physical defects.
• Distal arthrogryposis, Moore-Weaver type: A rare disorder characterized mainly by clenched fists, permanent flexion of toes and fingers and head and facial abnormalities.
• Distal trisomy 6q: Partial Trisomy 6q is a very rare genetic disorder where there are three copies of a portion of chromosome 6 in the cells of the body instead of the normal two. The range and severity of symptoms is variable.
• Distinctive Craniofacial Features - Pterygia - Mental Retardation: A very rare syndrome characterized mainly by short stature, underdeveloped genitals and various skull and facial anomalies.
• Double outlet right ventricle: A very rare birth defect where the aorta and the pulmonary artery both exit from the right ventricle and thus blood is unable to be pumped to the lungs. However, a hole connects the two ventricles and ultimately allows some blood flow to the lungs. The severity of symptoms varies depending on the location of the connecting hole in the heart and the exact location of the two arteries with respect to the heart.
• Doxepin - Teratogenic Agent: There is evidence to indicate that exposure to Doxepin 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.
• Doxycycline - Teratogenic Agent: There is evidence to indicate that exposure to Doxycycline 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.
• Duodenal atresia tetralogy of Fallot: A rare birth defect characterized by a heart defect and an intestinal malformation where the duodenum is absent or closed off which prevents digested material passing through.
• Dup (1) (q21.2-qter) and dup (14)(pter-q13): A very rare chromosomal disorder where a portion of the long arm (q21.2-qter) of chromosome one and the long arm of chromosome 14 (pter-q13) is duplicated. In the reported case, the fetus was aborted.
• Dup (1) (q25-qter) and del (18p): A very rare chromosomal disorder (single reported case) where the end portion of the long arm (q25-qter) of chromosome one is duplicated and the short arm of chromosome 18 is missing.
• Dup (1) (q32-qter) and del (7)(q32-qter): A very rare chromosomal disorder where a portion of the long arm (q32-qter) of chromosome one is duplicated and the long arm of chromosome 7 (q32) is deleted. There have only been a couple of reported cases and symptoms may vary somewhat between patients.
• Dup (5)(q22-q23): A rare chromosomal disorder involving duplication of a certain section (q22-q23) of the long arm of chromosome 5 which results in various abnormalities.
• Dup (5)(q31-qter): A rare chromosomal disorder involving duplication of a certain section (q31-qter) of the long arm of chromosome 5 which results in various abnormalities.
• Dup (5)(q32-qter): A rare chromosomal disorder involving duplication of a certain section (q32-qter) of the long arm of chromosome 5 which results in various abnormalities.
• Dup (5)(q33-qter): A rare chromosomal disorder involving duplication of a certain section (q33-qter) of the long arm of chromosome 5 which results in various abnormalities.
• Duplication 10p: A rare chromosomal disorder where there are three copies of the short arm (p) of chromosome 10 rather than the normal two resulting in various abnormalities. The type and severity of symptoms depend on the amount and location of genetic material duplicated.
• Duplication 12p: A rare chromosomal disorder where there are three copies of the short arm (p) of chromosome 12 rather than the normal two resulting in various abnormalities. The type and severity of symptoms depend on the amount and location of genetic material deleted.
• Duplication 12q: A rare chromosomal disorder where there are three copies of the long arm (q) of chromosome 12 rather than the normal two resulting in various abnormalities. In most cases, death occurs during infancy. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is duplicated.
• Duplication 13: A rare and very severe chromosome disorder leading to mental retardation and physical defects. It is so severe that many babies die soon after birth. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is duplicated.
• Duplication 2p: A rare chromosomal disorder where a portion of the short arm (p) of chromosome 2 is duplicated so there is three copies of it rather than the normal two.
• Duplication 2q: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 2 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
• Duplication 5q: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 5 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
• Duplication 6q: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 6 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
• Duplication 6q, partial: Partial Trisomy 6q is a very rare genetic disorder where there are three copies of a portion of chromosome 6 in the cells of the body instead of the normal two. The range and severity of symptoms is variable.
• Duplication 7q: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 7 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
• Duplication 8p: A rare chromosomal disorder where the short arm (p) of chromosome 8 is duplicated resulting in three copies instead of two. The type and severity of symptoms depends on the location and length of genetic material duplicated.
• Duplication 8q: A rare chromosomal disorder where the long arm (q) of chromosome 8 is duplicated resulting in variable abnormalities depending on the location and length of genetic material deleted.
• Duplication 9p partial: A very rare genetic disorder where a portion of the genetic material on the short arm (p) of chromosome 9 is duplicated which results in various abnormalities. The type and severity of symptoms varies depending on the size and location of the genetic material involved.
• Dupuytren's contracture: A progressive condition involving the thickening of deep tissue that runs from the palm to the fingers which results in the fingers being pulled into the palm
• Dwarfism - stiff joint - ocular abnormalities: A very rare form of dwarfism characterized by short stature as well as stiff joints and eye abnormalities.
• Dwarfism, short-limb - absent fibulas - very short digits: A very rare disorder characterized by short limbs, missing calf bones and very short fingers and toes due to under developed or missing bones.
• Dyphylline - Teratogenic Agent: There is evidence to indicate that exposure to Dyphylline (a bronchodilator) 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.
• Dyserythropoietic anemia, congenital type 1: A very rare genetic blood disorder where abnormal red blood cells are made resulting in anemia. Finger and toe abnormalities are also usually present.
• 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.
• Dysostosis peripheral: A rare condition characterized by malformed bones in the hands and feet. The severity of the malformation is variable.
• Dystrophic epidermolysis bullosa: A rare inherited skin blistering condition which can vary in severity depending on how it is inherited. Recessively inherited are more severe than dominantly inherited cases and can cause the loss of patches of skin and scarring which can impair limb function.
• ECP syndrome: A rare malformation syndrome characterized by a cleft palate and missing fingers.
• EEC syndrome: A rare genetic disorder characterized by absence of fingers and toes, ectodermal dysplasia and cleft lip or cleft palate.
• EEC syndrome without cleft lip/palate: A rare syndrome characterized mainly by hand, foot deformities as well as hair, skin, nail and tooth abnormalities (ectodermal dysplasia).
• Ebstein's anomaly: A heart defect where the tricuspid valve is malformed
• Ectodermal dysplasia: A group of rare inherited conditions which affect the ectodermal skin layer which includes the skin, hair, teeth and nails.
• Ectodermal dysplasia - arthrogryposis - diabetes mellitus: A rare syndrome characterized by diabetes, short stature and tooth, hair and nail abnormalities.
• Ectodermal dysplasia - ectrodactyly - macular dystrophy: A rare syndrome characterized mainly by skin, hair, nail and eye abnormalities as well as missing fingers.
• Ectodermal dysplasia - neurosensory deafness: A rare syndrome characterized by nerve deafness, abnormally bent fifth fingers, ectodermal dysplasia and scoliosis.
• Ectodermal dysplasia anhidrotic: A rare inherited condition involving skin, hair, teeth and nail abnormalities. The condition is characterized by the absence of sweat and sebaceous glands, underdeveloped hair and teeth, characteristic face and other physical deformities.
• Ectodermal dysplasia mental retardation syndactyly: A rare syndrome characterized by mental retardation, webbed fingers and hair, nail and teeth abnormalities.
• Ectodermal dysplasia trichoodontoonychial type: A rare syndrome characterized by nail, tooth and hair abnormalities.
• Ectrodactyly - Ectodermal Dysplasia - Cleft Lip/Palate Syndrome, Type 1: EEC (Ectrodactyly, ectodermal dysplasia, cleft lip/palate) is a rare inherited condition characterized by split hand and foot deformities of variable severity, cleft lip or palate and teeth and hair anomalies. There are two main types of EEC which differ in the origin of the genetic defect. Type 1 is caused by a defect on chromosome 7q11. The severity and type of symptoms and deformities is highly variable.
• Ectrodactyly - Ectodermal Dysplasia - Cleft Lip/Palate Syndrome, Type 3: EEC (Ectrodactyly, ectodermal dysplasia, cleft lip/palate) is a rare inherited condition characterized by split hand and foot deformities of variable severity, cleft lip or palate and teeth and hair anomalies. There are two main types of EEC which differ in the origin of the genetic defect. Type 3 is caused by a defect on chromosome 3q27. The severity and type of symptoms and deformities is highly variable.
• Ectrodactyly - polydactyly: A rare syndrome characterized primarily by extra digits, missing digits, cleft foot or cleft hand.
• Ectrodactyly cleft palate syndrome: A rare malformation syndrome characterized by a cleft palate and missing fingers.
• Ectrodactyly dominant form: A genetic disorder where fingers or parts of fingers are missing and is often associated with a cleft in the hand. There are many variations of this condition.
• Ectrodactyly, recessive form: A rare recessively inherited disorder where missing fingers give the hands a "lobster-claw" appearance.
• Edwards Syndrome: A rare inherited genetic disorder where a portion of chromosome 18 is duplicated. Most affected individuals die during the fetal stage and surviving infants have serious defects and tend to live for only a short while.
• Edwards-Gale Syndrome: A rare hand and foot abnormality where the fingers and toes are unusually short and the first part of the fingers or toes are held in a fixed contracted position.
• Ehlers-Danlos syndrome Type I: A rare genetic connective tissue disorder characterized by hyperextensible joints, hyperextensible skin and poor wound healing.
• Ehlers-Danlos syndrome type V: A rare genetic connective tissue disorder characterized by skin hyperextensibility, moderate joint hypermobility and moderate vascular fragility.
• Ehlers-Danlos syndrome, classic type: A rare genetic connective tissue disorder characterized by hypermobile joints, joint dislocations and skin hyperextensibility and fragility - a combination of ED types I and II.
• Eisenmenger Syndrome: Increased lung blood pressure that can result from conditions such as a hole in the wall between the two heart chambers.
• Elejalde syndrome: A rare congenital syndrome characterized excessive fetal growth, skull abnormalities, extra fingers or toes and other abnormalities.
• Emanuel syndrome: A rare chromosomal disorder where a portion of chromosome 11 is translocated with a portion of chromosome 22. The disorder involves a wide range of abnormalities such as kidney, genital and heart abnormalities, mental retardation, small head and failure to thrive.
• Emery-Nelson syndrome: A rare condition characterized by a flat face and hand and foot abnormalities.
• Emphysema: Emphysema is a type of chronic obstructive pulmonary disease (COPD). It is defined as an abnormal, permanent enlargement of the air spaces distal to the terminal bronchioles accompanied by destruction of their walls and without obvious fibrosis.
• 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.
• Eng Strom syndrome: A rare syndrome characterized by short stature and episodes of locked finger joints.
• Engelhard-Yatziv syndrome: A rare syndrome characterized mainly by droopy eyelids, small head and finger and toe abnormalities.
• Epidermolysis bullosa simplex with mottled pigmentation: A variant of a skin blistering disease which also involved a skin pigmentation anomaly.
• Epidermolysis bullosa, dermolytic: A rare genetic syndrome characterized by fragile skin which blisters easily due to defective skin collagen. The mucosal lining of the mouth and even intestines may be effected in severe cases.
• Epidermolysis bullosa, junctional: A rare inherited skin disease which is characterized by fragile skin which readily forms skin blisters and can result in fatal complications.
• Epimetaphyseal skeletal dysplasia: A rare syndrome characterized mainly by abnormal bone development.
• Epiphyseal dysplasia - hearing loss - dysmorphism: A rare syndrome characterized mainly by hearing loss, unusual face and bone development abnormalities.
• Epiphyseal dysplasia dysmorphism camptodactyly: A rare syndrome characterized mainly by hearing loss, unusual face and bone development abnormalities.
• Epiphyseal dysplasia, multiple: Abnormalities in the ends of a number of bones resulting in the early onset of osteoarthrosis and joint pain. There are 6 different subtypes of the disease, with each caused by a mutation in a different gene.
• Epiphyseal dysplasia, multiple, 1: Abnormalities in the ends of a number of bones resulting in the early onset of osteoarthrosis and joint pain. It is caused by a defect in the gene for COMP which is a cartilage protein.
• Epiphyseal dysplasia, multiple, 2: Abnormalities in the ends of a number of bones resulting in the early onset of osteoarthrosis and joint pain. It is caused by a defect in the COL9A2 gene.
• 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.
• Erythromelalgia: A rare disorder characterized by periods of burning pain, redness and warmth in the feet and hands.
• 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.
• Eyebrows duplication of, with stretchable skin and syndactyly: A rare syndrome characterized mainly by duplication of some of the eyebrow, increased skin elasticity and webbed fingers and toes.
• Eyebrows duplication syndactyly: A rare syndrome characterized mainly by duplication of some of the eyebrow, webbed fingers and toes and occasionally increased skin elasticity and other variable symptoms.
• FACES syndrome: A rare syndrome characterized mainly by short stature, webbed fingers and toes and skeletal abnormalities.
• 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.
• Facio-auriculo-radial dysplasia: A very rare syndrome characterized mainly by limb abnormalities, deafness and an abnormal heart rhythm.
• Facioskeletalgenital syndrome, Rippberger type: A rare syndrome characterized by facial, skeletal and genital abnormalities.
• Faciothoracogenital syndrome: A rare syndrome characterized by facial, chest and genital abnormalities.
• Fahr's Syndrome: A rare neurologic disorder where calcium is deposited in various parts of the brain resulting in progressive loss of motor and mental function.
• Fallot syndrome: A congenital heart disorder consisting of four heart defects - hole between the ventricles (ventricular septal defect), obstruction from right ventricles to the lungs (subpulmonary stenosis), overriding aorta and thickened right ventricle muscle.
• Familial emphysema: A rare genetic form of emphysema caused by a deficiency of alpha-1 antitrypsin (AAT) which results in destruction of the elastin component of the lung structure. The disorder tends to run in families (familial).
• Familial pulmonary arterial hypertension: Familial pulmonary arterial hypertension refers to high blood pressure in the arteries that carry blood to the lungs. Blood pressure in other parts of the body is normal or sometimes even low. The condition occurs in a familial pattern i.e. tends to run in families.
• Faye-Petersen-Ward-Carey syndrome: A very rare syndrome characterized by excess fluid in the skull, a blood disorder and bone and bone abnormalities.
• Femur-fibula-ulna syndrome: A very rare syndrome characterized mainly by abnormalities of the thigh, forearm and calf bone. The degree of abnormality and number of limbs involved is variable. The upper limbs are affected more than the lower limbs and the right side is affected more than the left side.
• Fibrochondrogenesis: A rare genetic disorder characterized by short stature, abnormal bone formation and stillbirth or neonatal death.
• Fibrosing alveolitis: A condition characterized by abnormalities in the fibrous tissues between lung alveoli which results in inflammation.
• Fibula aplasia complex - brachydactyly: A very rare syndrome characterized mainly by short fingers small or absent fibula (calf bone) and other bone abnormalities.
• Fibular aplasia - ectrodactyly: A very rare syndrome characterized mainly by various bone abnormalities involving the arms and feet.
• Fibular hypoplasia or aplasia - femoral bowing - oligodactyly: A rare syndrome characterized mainly by abnormalities involving the thighbone, fingers and fibula (calf bone).
• Filippi Syndrome: A very rare disorder involving finger and toe abnormalities, a small head, characteristic face and physical and mental retardation. The number of digits involved and extent of webbing between digits is variable as are many of the other features.
• Finger bleeding: Bleeding from the finger or fingers
• Finger blueness: A blue discolouration on the finger or fingers
• Finger bruise: A haematoma that occurs on the finger
• Finger clubbing: Swelling of the tissue beneath the fingernails, generally due to a chronic disease process elsewhere in the body
• Finger coldness: A cold sensation occurring on the finger or fingers
• Finger conditions: Conditions that affect the fingers
• Finger itch: A sensation that causes a desire to scratch the skin of the finger
• Finger lump: A palpable lesion located anatomically on the finger or fingers
• Finger numbness: Loss of feeling or sensation
• Finger pain: Pain affecting the fingers
• Finger paralysis: A loss of the motor and or sensory function of the finger due to either a muscular or neural mechanism
• Finger paresthesia: Finger tingling, prickling, numbness or burning sensations
• Finger rash: An eruption on the skin of the finger or fingers.
• Finger spasm: A sudden involuntary contraction of the muscles of the finger or fingers.
• Finger sprain: Damage to ligaments in a finger.
• Finger swelling: A swelling located on the finger or fingers
• Finger ulcers: The occurrence of skin ulcers on the fingers
• Finger weakness: A decrease in the usual strength of the movements of the finger or fingers
• Fingernail bleeding: Bleeding from the fingernail
• Fingernail blueness: A blue discolouration of the fingernail
• Fingernail bruise: A haematoma that occurs on the fingernail
• Fingernail itch: A sensation that causes a desire to scratch the fingernail
• Fingernail lump: A lump located on the fingernail
• Fingernail rash: A rash that is located in the fingernail
• Fingernail symptoms: Symptoms affecting the fingernails
• Finlay-Markes syndrome: A very rare syndrome characterized mainly by scalp, nipple and ear abnormalities.
• Fischer Syndrome: A rare condition characterized by unusual facial appearance, thickened skin on palms and soles, physical and mental delay and various other anomalies.
• Fitzsimmons-Guilbert syndrome: A very rare syndrome characterized mainly by paraplegia, short fingers and bone abnormalities. The paraplegia progresses slowly.
• Floating Harbor Syndrome: A rare genetic disorder characterized by growth deficiency, typical facial appearance and speech delay.
• Fluoxetine - Teratogenic Agent: There is evidence to indicate that exposure to Fluoxetine 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.
• Flurazepam - Teratogenic Agent: There is evidence to indicate that exposure to Flurazepam 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.
• Focal dermal hypoplasia: A rare genetic disorder characterized by bone, skin, teeth and pigmentation abnormalities as well as asymmetry of the face, trunk ant extremities.
• Fontaine-Farriaux-Blanckaert syndrome: A rare syndrome characterized by premature fusion of skull bones as well as various other abnormalities.
• Fosinopril - Teratogenic Agent: There is evidence to indicate that exposure to Fosinopril during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Frank-Ter Haar syndrome: A rare genetic bone disorder characterized by skeletal abnormalities, enlarged corneas and characteristic facial abnormalities.
• Fraser-Jequier-Chen syndrome: A very rare disorder characterized by a cleft epiglottis and larynx, extra fingers and toes and kidney, pancreatic and bone abnormalities. The internal organs are also located on the opposite side of the body to normal (situs inversus totalis).
• Frias syndrome: A rare syndrome characterized mainly by short stature, short fingers and toes and facial anomalies.
• Frints - De Smet - Fabry - Fryns syndrome: A rare syndrome characterized by a variation of Larsen syndrome where the physical manifestations are asymmetrical. This is believed to be a mosaic form of the genetic condition where the genetic anomaly is present in only some of the body's cells leading to asymmetric manifestations.
• Frontometaphyseal dysplasia: A rare genetic disorder characterized by craniofacial abnormalities, skeletal abnormalities, hearing problems and wasting of arm and leg muscles.
• Fryns Syndrome: A rare genetic disorder characterized by diaphragmatic abnormalities, coarse face and abnormal growth or development of ends of fingers and toes.
• Fuhrmann syndrome: A rare syndrome characterized mainly by abnormalities involving the thighbone, fingers and fibula (calf bone).
• Fuhrmann-Rieger-de Sousa syndrome: A rare syndrome characterized mainly by abnormalities involving the thighbone, fingers and fibula (calf bone).
• Fukuda-Miyanomae-Nakata syndrome: A rare syndrome characterized mainly tooth, bone and nail abnormalities as well as anal and urethral anomalies.
• Fukuyama type muscular dystrophy: A rare inherited muscle wasting disease occurring predominantly in Japan and characterized by mental retardation and muscle weakness from infancy.
• Fungal nail infections: Fungal conditions of the toenail or fingernail
• Gamma Hydroxybutyric Acid - Teratogenic Agent: There is evidence to indicate that exposure to Gamma Hydroxybutyric 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.
• Garret-Tripp syndrome: A rare syndrome characterized mainly by extra digits, a lack of hair and scaly skin on the scalp, face and neck.
• Genoa syndrome: A rare disorder characterized mainly by premature fusion of skull bones and partial separation of the two brain halves.
• Gerstmann's Syndrome: Brain defect causing various cognitive problems.
• Gigantism partial - nevi - hemihypertrophy - macrocephaly: A rare genetic disorder characterized by overgrowth of bones, fatty tissues and skin in various parts of the body.
• Glass-Chapman-Hockley syndrome: A rare syndrome characterized mainly by short fingers, facial anomalies and premature fusion of skull bones giving the head an abnormal shape.
• 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.
• Glutamine deficiency, congenital: A rare genetic metabolic disorder characterized by a deficiency of the glutamine synthase enzyme. This results in a lack of glutamine in the serum, urine and brain and spinal fluid. The condition results in infant death within weeks of birth.
• Golden-Lakin syndrome: A rare syndrome characterized by a webbed neck, sunken chest, curved spine abd various other abnormalities.
• Gollop Coates syndrome: A very rare type of arm malformation involving only one arm. The lower part of the upper arm bone is forked as well as the absence of some digits and fusion of others.
• Goodman camptodactyly: A rare genetic disorder characterized by head, hand and genital anomalies. It is a mild form of Carpenter syndrome without mental retardation and less pronounced deformities.
• Goossens-Devriendt syndrome: A very rare syndrome characterized mainly by a brain defect, congenital heart disease and extra fingers.
• Gordon Syndrome: A genetic musculoskeletal disorder characterized mainly by camptodactyly, cleft palate and club foot. The type and severity of symptoms is variable.
• Gorlin-Chaudhry-Moss Syndrome: A very rare inherited condition involving various physical and mental abnormalities.
• Gout: Painful joints, most commonly the big toe.
• Grange syndrome: A rare syndrome characterized by the abnormal narrowing of various arteries, high blood pressure, heart defects, fragile bones and short, webbed digits. The congenital heart defects are not present in all cases.
• Grebe Syndrome: A rare genetic disorder characterized by very short limbs and extra fingers and toes.
• Green nail syndrome: A nail infection caused by Pseudomonas aeruginosa and sometimes Aspergillus. The infection tends to occur in women who spend a lot of time with their hands in soapy water or detergents. The nails develop varying patterns of greenish discoloration.
• Greig Cephalopolysyndactyly Syndrome: A rare genetic disorder characterized by premature closing of skull bones and craniofacial abnormalities, finger and toe abnormalities.
• Grip Disorders: The loss/decline of grip strength.
• Griseofulvin - Teratogenic Agent: There is evidence to indicate that exposure to Griseofulvin (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.
• Grob syndrome: A rare disorder characterized by a partial lack of hair, epicanthus, cleft lip and palate, mental deficiency, short fingers and various other anomalies.
• Growth deficiency brachydactyly unusual facies: A rare syndrome characterized mainly by short stature, short fingers and toes and facial anomalies.
• Guaifenesin - Teratogenic Agent: There is evidence to indicate that exposure to Guaifenesin 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.
• Gurrieri-Sammito-Bellussi syndrome: A rare syndrome characterized by epilepsy, short stature and skeletal abnormalities.
• Halal Setton Wang syndrome: A very rare syndrome characterized mainly by eye, teeth, nail and skin abnormalities.
• Halal syndrome: A very rare syndrome characterized mainly by a small head and a cleft palate.
• Hall-Riggs mental retardation syndrome: A rare inherited disorder characterized by mental retardation, distinctive facial features and various bone abnormalities.
• Halm-Munk syndrome: A rare inherited disorder involving red, thickened patches of skin on the palms and soles, skin infections and nail and teeth abnormalities.
• Hand symptoms: Symptoms affecting the hand
• Hand-foot-uterus syndrome: A rare genetic condition characterized by hand, foot and uterus abnormalities.
• Hanhart Syndrome: An autosomal recessive disorder due to a deficiency in the body of the tyrosine amino transferase enzyme.
• Hapnes-Boman-Skeie syndrome: A rare disorder where the abnormal attachment of tendons in the fingers prevents them from opening and closing normally.
• Haspeslagh Fryns Muelenaere syndrome: A very rare syndrome characterized mainly by short stature, underdeveloped genitals and various skull and facial anomalies.
• Hay-Wells Syndrome: A rare genetic disorder characterized by ankyloblepharon, ectodermal dysplasia, and cleft lip and/or cleft palate.
• Hay-Wells syndrome, recessive type: A rare recessively inherited genetic disorder characterized by ankyloblepharon, ectodermal dysplasia, and cleft lip and/or cleft palate. The recessive form of this condition is distinguished by the presence at birth of adhesions between the upper and lower jaws.
• Heart cancer: A malignancy that is located in the heart
• Heart defect, tongue hamartoma and polysyndactyly: A very rare syndrome characterized mainly by webbed fingers, congenital heart defects and tongue tumors.
• Heart-hand syndrome, Slovenian type: A rare disorder characterized by heart and hand abnormalities.
• Heart-hand syndrome, Spanish type: A very rare syndrome characterized mainly by heart and hand abnormalities.
• Heparin - Teratogenic Agent: There is evidence to indicate that exposure to Heparin (an anticoagulant drug) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Herbal Agent adverse reaction - Senna: Senna can be used to treat constipation or to prepare the colon for a rectal examination. The herbal agent can cause an adverse reaction in some people.
• Hereditary hypothyroidism: Hereditary hypothyroidism is a condition in which there is a defect in the thyroid gland which leads to increased production of TSH reduced production of thyroid hormone.
• Hereditary koilonychia: An inherited anomaly where the nails are flattened or concave-shaped rather than the normal curved shape.
• Hereditary neuropathy with liability to pressure palsies: A rare disorder where the peripheral nerves are more sensitive to pressure than normal which results in recurring periods of numbness, tingling and sometimes loss of muscle function. The condition can affect one or more nerves such as the carpal tunnel nerve. Permanent damage to peripheral nerves can result from recurring episodes. The severity of symptoms are greatly variable from virtually asymptomatic to disability.
• Herrmann-Opitz craniosynostosi: A very rare syndrome characterized mainly by mental retardation, skeletal abnormalities and an unusual facial appearance.
• Hexachlorophene - Teratogenic Agent: There is evidence to indicate that exposure to Hexachlorophene 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.
• Hidrotic ectodermal dysplasia, type Christianson-Fourie: A very rare syndrome characterized mainly by hair and nail abnormalities.
• Histidinuria, renal tubular defect: A very rare syndrome where a kidney defect causes high levels of histidine in the urine.
• Holoprosencephaly - ectrodactyly - cleft lip/palate: A very rare syndrome characterized mainly by a cleft hand, lip and/or palate and the failure of the brain to separate into two lobes.
• Holoprosencephaly, recurrent infections, and monocytosis: A rare syndrome characterized by recurring infections and a brain anomaly. Death usually occurs during the first years of life due to sepsis.
• Holzgreve-Wagner-Rehder syndrome: A rare genetic disorder characterized by extra fingers, cleft palate, heart abnormalities, growth retardation and various other anomalies.
• Homocystinuria: A rare inherited metabolic disorder involving the amino acid methionine and resulting in a harmful accumulation of homocysteine in the body.
• Homocystinuria syndrome: A rare genetic connective tissue disorder caused by an enzyme deficiency and characterized by dislocation of eye lens, malar flush and osteoporosis.
• Hoon-Hall syndrome: A very rare syndrome characterized mainly by dislocated joints and various other skeletal abnormalities.
• Humerus, trochlea, aplasia of: A very rare syndrome characterized by arm abnormalities primarily involving the absence of a part of the upper arm called the trochlea. The trochlea is the end of the arm bone which allows arm movement through it's pulley-like structure.
• Hunter-MacDonald syndrome: A rare syndrome characterized by multiple skeletal abnormalities, short stature, unusual facial features, hearing loss and a predisposition for developing meningiomas.
• Huntington's disease: Inherited disease causing progressive mental deterioration.
• Hutchinson Gilford Syndrome: A rare genetic disorder characterized by alopecia and senile-like appearance.
• Hydrops ectrodactyly syndactyly: A very rare disorder characterized mainly be webbed fingers and toes, hand defect and hydrops (abnormal accumulation of fluid in the fetus).
• 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.
• Hyperphalangism - dysmorphy - bronchomalacia: A very rare syndrome characterized mainly by finger and toe abnormalities, unusual facial features and narrowed airways.
• Hypocalcemia: Low blood calcium levels
• Hypochondroplasia: A rare genetic disorder characterized by short stature which becomes more obvious during and after childhood.
• Hypodontia - nail dysgenesis: A syndrome that is characterized by the occurrence of nail dysplasia and tooth abnormalities. Primary teeth are usually normal but some secondary teeth may be missing. The toenails tend to be more affected than the fingernails.
• Hypodontia dysplasia of nails: A syndrome that is characterised by the occurrence of nail dysplasia and tooth abnormalities. Primary teeth are usually normal but some secondary teeth may be missing. The toenails tend to be more affected than the fingernails.
• 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.
• Hypomelia - mullerian duct anomalies: A rare genetic disorder characterized by severely underdeveloped arms and uterine and vaginal abnormalities.
• Hypoparathyroidism: causesd by lack of PTH
• Hypoparathyroidism familial isolated: A rare familial condition involving low levels of parathyroid hormone which upsets the body's ability to regulate calcium and phosphate. The severity of symptoms is determined by the how low the parathyroid hormone level is.
• Hypoplasia of the tibia with polydactyly: A very rare syndrome characterized mainly by an extra little finger and toe as well as an underdeveloped shin bone.
• Hypotelorism - cleft palate - hypospadias: A very rare syndrome characterized mainly by an abnormally placed urethral opening, cleft palate and close set eyes.
• Hypothalamic hamartomas: A benign congenital tumor that develops on or near the hypothalamus.
• Hypothyroid goitre: Goitre is the enlargement of the thyroid gland and hypothyroid state is characterized by increased TSH levels and decreased T3 and T4 levels circulating in the body.
• Hypothyroidism postaxial polydactyly mental retardation: A very rare syndrome characterized by abnormally low thyroid levels, extra digits, mental retardation and unusually facial appearance.
• Ibuprofen - Teratogenic Agent: There is evidence to indicate that exposure to Ibuprofen 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.
• Ichthyosis - alopecia - eclabion - ectropion - mental retardation: A very rare syndrome characterized mainly by scaly skin, hair loss, mental retardation and outwardly turned eyelids and lips.
• Idaho syndrome: A very rare syndrome characterized by a variety of abnormalities including clubfoot, mental retardation, finger abnormalities and a congenital heart defect.
• Idiopathic Pulmonary Fibrosis: Lung fibrosis from unknown causes.
• Idiopathic pulmonary hypertension: A rare condition where sclerosis of the pulmonary arteries cause cyanosis, polycythemia and heart failure.
• Inclusion Body Myositis: Progressive inflammatory muscle disease causing muscle weakness.
• Incontinentia Pigmenti: A rare genetic skin pigmentation disorder characterized by eye, teeth, bone, nail and hair malformations as well as central nervous abnormalities and mental deficiency.
• Ingrown nails: Inward growth of finger-nails or toe-nails.
• Iodinated glycerol - Teratogenic Agent: There is evidence to indicate that exposure to Iodinated glycerol 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.
• Iron deficiency anemia: Iron-deficiency anemia is a blood condition characterized by low levels of iron in the body which leads to a reduction in the number of red blood cells.
• Isoniazid - Teratogenic Agent: There is evidence to indicate that exposure to Isoniazid 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.
• Ivemark Syndrome: A rare progressive disorder characterized by absence or abnormal development of the spleen and malformations of the heart vessels.
• Ives-Houston syndrome: A rare inherited syndrome characterized by retarded fetal growth, small head, malformed limbs and death before or soon after birth.
• Jacobs syndrome: A very rare syndrome characterized mainly by heart inflammation (pericardium), joint disease and permanent finger flexion. The number of joints affected is variable.
• Jacobsen syndrome: A very rare chromosomal disorder involving the absence of a portion of chromosome 11q. The range and severity of symptoms is determined by the size of the portion that is deleted.
• Jadassohn-Lewandowsky syndrome: A rare, inherited disorder characterized by thickening of nails, white patches on mouth and anus(leukoplakia) and thickened hard skin on soles and palms.
• Jansen type metaphyseal chondrodysplasia: A rare genetic disorder characterized by extremely short stature, unusual face and skeletal and joint abnormalities.
• Jeune syndrome: A rare genetic disorder characterized by short limbs, underdeveloped iliac wings and a narrow rigid thoracic cage that often results in asphyxiation.
• Johnson-Munson syndrome: A rare congenital disorder characterized by missing fingers and toes, abnormal vertebrae and various malformations of the organs.
• Joint injury - finger: An injury to the finger joints. Severity of symptoms varies depending on the type and severity of the injury and often the primary symptom is pain. A finger joint injury can involve damage to the bones, ligaments or other tissues of the joint. The injury may be acute (e.g. trauma) or chronic (e.g. overuse).
• Joubert Syndrome: A rare neurological disorder where there is a defect in the part of the brain that controls coordination and balance.
• Jugular lymphatic obstruction sequence: A rare disorder caused by obstruction of the jugular lymphatic system due to problems during the fetal stage of development.
• KBG Syndrome: A very rare genetic disorder involving short stature, mental retardation, abnormal development of various bones.
• Kabuki syndrome: A rare genetic disorder characterized by distinctive facial features.
• Kawasaki disease: A childhood illness that generally affects the skin, mouth and lymph nodes.
• Keratoderma palmoplantaris transgrediens et progrediens: A rare syndrome characterized mainly by coarse hair and superficial horny growths on the palms and soles. Short fingers and thin nails have also been observed.
• Keratosis focal - palmoplantar, gingival: A rare syndrome characterized mainly by thickened skin on the soles and palms in areas that are under the most trauma e.g. weight-bearing part of sole. The gums also have thickened growths.
• Keratosis palmoplantaris - periodontopathia - onychogryposis: A rare syndrome characterized by gum disease, nail and skin problems and various other anomalies.
• Kidney symptoms: Symptoms affecting one or both kidneys.
• Kleeblattschaedel syndrome: A very rare syndrome characterized mainly by a head the is somewhat cloverleaf shaped.
• Kniest dysplasia: A rare genetic bone growth disorder characterized by dwarfism, enlarged joints and facial deformities.
• Knuckle pain: A feeling of distress and agonycaused by the stimulation of pain nerve endings in the knuckle
• Koussef nichols syndrome: A very rare syndrome characterized mainly by muscle problems, a high body temperature and various other physical abnormalities.
• Kousseff-Nichols syndrome: A very rare syndrome characterized mainly by muscle problems, a high body temperature and various other physical abnormalities.
• Kumar levick syndrome: A rare syndrome characterized by missing or abnormal nails, missing fingers, permanently bent fingers and a finger-like thumb.
• L-hyoscyamine - Teratogenic Agent: There is evidence to indicate that exposure to L-hyoscyamine 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.
• LADD Syndrome: A very rare genetic disorder characterized by ear, teeth and tear duct abnormalities.
• Lacrimoauriculodentodigital syndrome: A rare genetic disorder characterized by ear, teeth and tear duct abnormalities.
• 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.
• Landy-Donnai syndrome: A very rare disorder characterized by a missing fingers and hand bones, webbed fingers, duplicated big toe and hydrops.
• Laplane-Fontaine-Lagardere syndrome: A very rare syndrome characterized mainly by very short stature and progressive stiffness of joints including the spine and hips.
• Larsen syndrome, dominant type: A congenital, genetic disorder characterized by many abnormalities including joint dislocations, bone abnormalities and an unusual dish-shaped face. The dominant form tends to have less severe dwarfism and more severe flattening of the face and is less likely to include webbed fingers, cleft palate and genital anomalies than the recessive form.
• Larsen syndrome, recessive type: A congenital, genetic disorder characterized by many abnormalities including joint dislocations, bone abnormalities and an unusual face.
• Larsen-like osseous dysplasia - dwarfism: A very rare syndrome characterized mainly by bone abnormalities, joint dislocations, unusual facial appearance and dwarfism.
• Le Marec-Bracq-Picaud syndrome: A very rare syndrome characterized mainly by a large head, short arms and clubfoot.
• Lederle - Teratogenic Agent: There is evidence to indicate that exposure to Lederle (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.
• Ledermycin - Teratogenic Agent: There is evidence to indicate that exposure to Ledermycin (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.
• Leprechaunism: A very rare genetic disorder characterized by insulin resistance which leads to growth delay and endocrine system abnormalities.
• Levothyroxine - Teratogenic Agent: There is evidence to indicate that exposure to Levothyroxine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Librium - Teratogenic Agent: There is evidence to indicate that exposure to Librium (a sedative or hypnotic 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.
• Limb deficiencies distal micrognathia: A rare genetic disorder characterized by a small jaw, small mouth and defects involving the hands and feet.
• Limb symptoms: Symptoms affecting the limbs
• Limb transversal defect - cardiac anomaly: A very rare syndrome characterized mainly by heart anomaly and leg and hand malformations involving missing bones.
• Limb-body wall complex: A rare condition where disruption of the amniotic band system can result in head, heart, lung, diaphragm, kidney or gonad abnormalities .
• Limb-mammary syndrome: A rare syndrome characterized by abnormalities of the hand and/or foot as well as absent or underdeveloped mammary glands and nipples. The severity of the deformity is variable. Tooth, nail and sweat gland abnormalities may also be present.
• Limited cutaneous systemic sclerosis: A rare disorder that primarily affects the skin and blood vessels. It is characterized by calcified skin deposits (C), Raynaud syndrome (R), esophageal dysfunction (E), scleroderma of the fingers and toes(S) and telengiectasia - dilated blood vessels (T).
• Liotrix - Teratogenic Agent: There is evidence to indicate that exposure to Liotrix during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Lisinopril - Teratogenic Agent: There is evidence to indicate that exposure to Lisinopril during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• 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.
• Lopes-Marques de Faria syndrome: A very rare syndrome characterized mainly by decreased hair and mental retardation.
• Lotrimin - Teratogenic Agent: There is evidence to indicate that exposure to Lotrimin (an antifungal 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.
• Lufyllin - Teratogenic Agent: There is evidence to indicate that exposure to Lufyllin (a bronchodilator) 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.
• Lujan-Fryns syndrome: A rare genetic disorder characterized by mental retardation and marfanoid habitus (features of Marfan's syndrome).
• Lupus: Autoimmune disease with numerous effects on various organs and linings.
• Lymphedema - ptosis: A very rare syndrome characterized mainly by lymphedema (lymphatic obstruction) in the legs and droopy eyelids.
• Lymphoid interstitial pneumonia: A relatively rare form of lung disease characterized by the buildup of lymphocytes (a type of white blood cell) in the air spaces or alveoli of the lungs. The condition can affect children or adults and is frequently associated with conditions such as HIV and autoimmune conditions such as rheumatoid arthritis and Hashimoto's thyroiditis. Symptoms may develop gradually over a period of months or even years in some cases.
• MacDermot-Winter syndrome: A very rare syndrome characterized mainly by a small head, underdeveloped genitalia and a protrusion of the area between the eyes (glabella).
• Macrocephaly, 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.
• Manouvrier syndrome: A very rare syndrome characterized mainly by the failure of the lungs to develop fully, heart defects and thumb abnormalities.
• Marden-Walker Syndrome: A rare genetic disorder characterized by blepharophimosis, joint contractures and fixed facial expression.
• Marfan syndrome: A genetic connective tissue disorder involving a defect of chromosome 15q21.1 which affects the production of the fibrillin needed to make connective tissue.
• Marfanoid hypermobility: An inherited connective tissue disorder with certain characteristics of Marfan and Ehlers-Danlos syndromes. Ehlers-Danlos syndrome is characterized by hyperextensible skin and loose joints and Marfan syndrome is characterized by symptoms such as tall, slender build, ear anomalies and hand contractures.
• Marie-Bamberg syndrome: A rare condition characterized by clubbing of fingers and toes, excessive sweating and development of fibrous tissue around the ends of bones. The condition is a form of hypertrophic osteoarthropathy that occurs secondary to other conditions such as cardiopulmonary disease and certain cancers.
• Marinesco-Sjögren I: A rare condition characterized by cerebellar ataxia, speaking difficulty, mental retardation, short stature and tooth, hair and nail abnormalities.
• Maroteaux-Fonfria syndrome: A rare congenital disorder characterized by extra little fingers and extra big toes as well as the normal features associated with Apert syndrome.
• McGillivray syndrome: A very rare syndrome characterized mainly by heart defects, skull and facial abnormalities and ambiguous genitalia.
• McKusick-Kaufman syndrome: A rare genetic disorder characterized by hydrometrocolpos (fluid buildup in vagina and uterus), extra fingers and congenital heart defects.
• Meckel Syndrome: A rare genetic disorder involving numerous abnormalities and characterized by death within the first few weeks.
• Meckel syndrome type 2: A very rare lethal syndrome characterized mainly by kidney and liver abnormalities, extra fingers and a gap in the back of the skull through which some brain matter protrudes.
• Meckel syndrome type 3: A very rare lethal syndrome characterized mainly by kidney and liver abnormalities, extra fingers and a gap in the back of the skull through which some brain matter protrudes. Type 3 differs from the other types in the location of the genetic defect and by the fact that meningoencephaloceles and extra fingers tend to occur less frequently.
• Meckel syndrome, type 5: A very rare lethal syndrome characterized mainly by kidney and liver abnormalities, extra fingers and a gap in the back of the skull through which some brain matter protrudes. Type 5 is caused by a defect in the RPGRIP1L gene on chromosome 16q12.2.
• Meclizine - Teratogenic Agent: There is evidence to indicate that exposure to Meclizine 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.
• Megalencephaly - cutis marmorata telangiectatica congenita: A very rare syndrome characterized mainly by an enlarged brain, neurological abnormalities and a blood vessel abnormality that gives the skin a marbled appearance.
• Megalencephaly - polymicrogyria - post-axial polydactyly - hydrocephalus: A rare syndrome characterized mainly by brain abnormalities, extra digits and a excess fluid inside the skull.
• Megalocornea mental retardation syndrome: A very rare genetic disorder characterized by reduced muscle tone from birth, mental retardation to varying degrees and eye abnormalities. The type and severity of symptoms is variable
• Melanoma: Melanoma is the most dangerous type of skin cancer. It is the leading cause of death from skin disease. It involves cells called melanocytes, which produce a skin pigment called melanin. Melanin is responsible for skin and hair color.
• Mental Retardation - Pterygia - Shortness - Distinctive Facial Appearance: A very rare syndrome characterized mainly by short stature, underdeveloped genitals and various skull and facial anomalies.
• Mental mixed retardation - deafness - clubbed digits: A rare disorder characterized mainly by mental retardation, deafness and clubbed fingers.
• Mental mixed retardation deafnes clubbed digits: A rare disorder characterized mainly by mental retardation, deafness and clubbed fingers.
• Mental retardation - blepharophimosis - obesity - web neck: A very rare syndrome characterized mainly by mental retardation, eye abnormalities, obesity and a webbed neck.
• Mental retardation - short broad thumbs: A very rare syndrome characterized mainly by mental retardation and short, broad thumbs.
• Mental retardation - short stature - absent phalanges: A very rare, recessively inherited syndrome characterized mainly by mental retardation, short stature and missing finger bones.
• 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 - short stature - heart and skeletal anomalies: A very rare syndrome characterized mainly by mental retardation, short stature and heart and skeletal anomalies.
• Mental retardation - spasticity - ectrodactyly: A very rare syndrome characterized mainly by mental retardation, spasticity and a cleft hand. In the reported case, the parents came from the same bloodline.
• Mental retardation - unusual facies - talipes - hand anomalies: A very rare syndrome characterized mainly by mental retardation, unusual facial appearance, clubfoot and hand abnormalities.
• Mental retardation X-linked dysmorphism: A very rare syndrome characterized mainly by mental retardation, partially dislocated knees and teeth and facial abnormalities.
• Mental retardation athetosis microphthalmia: A very rare syndrome characterized mainly by the association of mental retardation, small eyes and a movement disorder.
• 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, Mietens-Weber type: A very rare genetic condition characterized by mental retardation, corneal opacity, nystagmus, elbow contractures and dwarfism.
• Mental retardation, X-linked, Vitale type: A rare disorder characterized by mental retardation and facial and skeletal anomalies. The disorder is inherited in a X-linked manner which means that only males display the full range of symptoms whereas female carriers may have mild or no symptoms. The genetic defect occurs on chromosome Xq24.
• Mental retardation-polydactyly-uncombable hair: A very rare syndrome characterized mainly by mental retardation, extra fingers and uncombable hair.
• Meperidine - Teratogenic Agent: There is evidence to indicate that exposure to Meperidine 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.
• Mephenytoin - Teratogenic Agent: There is evidence to indicate that exposure to Mephenytoin during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Meprobamate - Teratogenic Agent: There is evidence to indicate that exposure to Meprobamate during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Mesalamine - Teratogenic Agent: There is evidence to indicate that exposure to Mesalamine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Mesomelia radial hypoplasia bifid thumb unusual facies: A rare syndrome characterized mainly by skeletal abnormalities, dwarfism and hair, nail, skin and teeth abnormalities.
• Metaphyseal dysostosis mental retardation conductive deafness: A rare, recessively inherited disorder characterized by mental retardation, deafness and skeletal abnormalities.
• Metaphyseal dysplasia - maxillary hypoplasia - brachydactyly: A very rare syndrome characterized mainly by short fingers, underdeveloped upper jaw and bone abnormalities involving the cone-shaped portion near the end of the bones where growth occurs.
• Metatrophic dysplasia: A very rare form of dwarfism involving short limbs and a long trunk. Less than 100 cases of the condition have been reported.
• Methacycline - Teratogenic Agent: There is evidence to indicate that exposure to Methacycline during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Methahemoglobinemia: Excess methahemoglobin in the blood
• Methamphetamine - Teratogenic Agent: There is evidence to indicate that exposure to Methamphetamine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Methimazole - Teratogenic Agent: There is evidence to indicate that exposure to Methimazole 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.
• Miconazole - Teratogenic Agent: There is evidence to indicate that exposure to Miconazole 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.
• Micrencephaly corpus callosum agenesis: A very rare disorder characterized by abnormal brain development which results in a very small brain. Patients may die during infancy and survivors suffer mental retardation and other physical abnormalities.
• Microbrachycephaly - ptosis - cleft lip: A very rare syndrome characterized mainly by a small, short head, droopy eyelids and a cleft lip.
• Microcephalic osteodysplastic primordial dwarfism, type 2: A very rare syndrome characterized mainly by
• Microcephalic primordial dwarfism, Toriello type: A very rare syndrome characterized mainly by dwarfism, mental retardation and other anomalies.
• Microcephaly - mesobrachyphalangy - tracheoesophageal fistula syndrome: A very rare syndrome characterized by an abnormally small head, short fingers and an abnormal opening between the trachea and esophagus.
• Microcephaly, hiatal hernia and nephrotic syndrome: A rare genetic disorder primarily involving physical and developmental abnormalities as well as kidney disease.
• Microcytic Anemia: Microcytic anemia is a blood disorder characterized by small red blood cells (erythrocytes). The red blood cells are small due to a failure of haemoglobin synthesis or insufficient quantities of haemoglobin available. The blood disorder is usually caused by conditions such as iron deficiency, chronic diseases and thalassemias.
• Microcytic hypochromic anemia: Microcytic anemia is a blood disorder characterized by small red blood cells (erythrocytes) which have insufficient haemoglobin and hence have a reduced ability to carry oxygen through the body. The red blood cells are small due to a failure of haemoglobin synthesis or insufficient quantities of haemoglobin available. The blood disorder is usually caused by conditions such as iron deficiency, chronic diseases and thalassemias. The severity and range of symptoms is variable.
• Microdeletion 3q29: A rare chromosomal disorder where a small portion of chromosome 3 is missing. The main features of the syndrome are mental retardation and slightly unusual facial appearance.
• Micromelic dwarfism, Fryns type: A very rare syndrome characterized mainly by short-limbed dwarfism.
• Microphthalmia - camptodactyly - mental retardation: A very rare disorder characterized by the association of small eyes, mental retardation and permanently flexed fingers.
• Mifepristone - Teratogenic Agent: There is evidence to indicate that exposure to Mifepristone 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.
• Mikaelian syndrome: A rare disorder characterized mainly by permanently flexed fingers, deafness and hair and teeth abnormalities.
• Minocycline - Teratogenic Agent: There is evidence to indicate that exposure to Minocycline during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Minoxidil (topical) - Teratogenic Agent: There is evidence to indicate that exposure to Minoxidil (topical) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Misoprostol - Teratogenic Agent: There is evidence to indicate that exposure to Misoprostol during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Mobius syndrome: Type of facial paralysis.
• Moebius Syndrome: Moebius syndrome is a very rare condition characterized by underdevelopment of the facial nerves (particularly sixth and seventh cranial nerves) which causes facial paralysis.
• Moebius sequence: A rare genetic disorder characterized by facial paralysis due to problems with 6th and 7th nerve development.
• Mohr syndrome: A rare genetic disorder characterized by oral frenula, oral clefts, underdeveloped nose flaps and finger abnormalities.
• Moloney syndrome: A very rare syndrome characterized mainly by wasting of the choroids in the eye and sparse, fine hair. The choroid is a layer of blood vessels that lies between the retina and the sclera and delivers blood to the back of the eye.
• Mononen-Karnes-Senac syndrome: A very rare syndrome characterized mainly by short fingers and other skeletal abnormalities involving the limbs. Males are affected to a greater degree than females.
• Montefiore syndrome: A very rare syndrome characterized mainly by skull, facial, heart and digital abnormalities.
• Morse-Rawnsley-Sargent syndrome: A very rare syndrome characterized mainly by abnormal brain development and reduced fetal movement.
• Mullerian derivatives - lymphangiectasia - polydactyly: A rare syndrome characterized by extra fingers, Mullerian duct remnants and lymphangiectasia.
• Multicentric osteolysis - nodulosis - arthropathy: A rare syndrome characterized by joint disease, loss of bone mineral density and nodulosis.
• Multiple pterygium syndrome: A very rare disorder characterized by webbing of various parts of the body, contractures, short stature, fusion of neck vertebrae and facial anomalies.
• Multiple synostoses syndrome 2: A rare disorder characterized by multiple fusions involving various bones in the body such as the fingers, toes and elbow.
• Multiple synostosis syndrome: A rare genetic disorder characterized by multiple bone fusions involving the face, limbs and middle ear.
• Muscular dystrophy, Duchenne and Becker type: An inherited l disorder characterized by progressive muscle weakness. The disorder is caused by a genetic anomaly and results in insufficient quantities of or ineffective dystrophin which is needed for normal muscle functioning. The disorder is expressed in males but females can be carriers.
• Mycelex - Teratogenic Agent: There is evidence to indicate that exposure to Mycelex (an antifungal 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.
• N syndrome: A rare genetic disorder characterized by mental and physical retardation, eye abnormalities, retarded growth, hearing impairment and a high risk of developing cancers, particularly leukemia. It is an extremely rare condition originally described in two brothers.
• Nablus mask-like facial syndrome: A rare disorder characterized by an unusual mask-like facial appearance.
• Naguib syndrome: A rare syndrome characterized mainly by wide-set eyes, hypospadias and extra fingers.
• Nail Ridges: Linear elevations that may be either horizontal or vertical on the fingernails or toenails.
• Nail abnormalities: abnormalities of the nail may be missed if the clinician is not aware of the classic patterns that are seen so infrequently
• Nail abnormality: An abnormality of the finger and/or toe nails.
• Nail conditions: Any condition that affects the nail
• Nail dysplasia, isolated congenital: A rare genetic disorder characterized by abnormal nail development which is usually evident at birth or soon after.
• Nail symptoms: Symptoms affecting the fingernails or toenails
• Nail-Patella Syndrome: A rare inherited disorder characterized by small or absent kneecap and ridged and/or absent nails as well as other abnormalities
• Nakajo syndrome: A very rare syndrome characterized mainly by
• Narrow oral fissure - short stature - cone-shaped epiphyses: A very rare syndrome characterized mainly by narrow mouth opening, short stature and abnormal bone development.
• Nephrosis neuronal dysmigration Syndrome: A rare genetic disorder primarily involving physical and developmental abnormalities as well as kidney disease. The type and severity of symptoms that can occur is variable.
• Nerve symptoms: Symptoms affecting the nerves
• Neurofaciodigitorenal syndrome: A very rare syndrome characterized mainly by
• Nguyen syndrome: A rare disorder characterized by low blood cholesterol, mental retardation and various congenital anomalies.
• Nicolaides-Baraitser syndrome: A very rare syndrome characterized mainly by short stature, reduced hair, short fingers, epilepsy and abnormal bone development.
• Nicoumalone - Teratogenic Agent: There is evidence to indicate that exposure to Nicoumalone during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Night blindness - skeletal anomalies - unusual facies: A very rare syndrome characterized mainly by night blindness, a distinctive face and skeletal abnormalities.
• Nodulosis-arthropathy-osteolysis syndrome: A rare syndrome characterized by joint disease, loss of bone mineral density and nodulosis.
• 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.
• OFD syndrome type IX: A rare genetic disorder characterized by oral frenula, oral clefts, underdeveloped nose flaps and finger and retinal abnormalities.
• OLEDAID: A rare syndrome characterized mainly by a weak immuned system, bone problems, lymphoedema and hair, teeth and nail abnormalities. Death usually occurs during the first few years of life due to overwhelming infections.
• OSMED, Homozygous: A very rare condition characterized mainly by bone malformations, hearing loss and facial anomalies.@
• Oculo cerebro acral syndrome: A very rare syndrome characterized mainly by eye, brain, ear and limb abnormalities.
• Oculo skeletal renal syndrome: A very rare syndrome characterized mainly by eye, skeletal and kidney problems.
• Oculo-osteo-cutaneous syndrome: A rare syndrome characterized mainly by eye, skeletal and skin abnormalities.
• Oculopalatoskeletal syndrome: A very rare syndrome characterized mainly by eye, mouth palate and skeletal abnormalities.
• Odonto-tricho-ungual-digito-palmarn syndrome: A rare syndrome characterized mainly by the presence of teeth at birth, hair loss and hand and foot malformations.
• Odontomicronychial dysplasia: A very rare syndrome characterized mainly by tooth and nail abnormalities.
• Odontoonychodermal dysplasia: A very rare syndrome characterized mainly by tooth, nail and skin abnormalities.
• Oliver syndrome: An extremely rare condition characterized by extra fingers and/or toes and mental retardation.
• Onchyomycosis: A fungal infection of the nail. The toenails tend to be affected more than the fingernails.
• Onychodystrophy - deafness: A very rare inherited disorder involving deafness (D), onychodystrophy (O - nail malformation), osteodystrophy (O - bone malformation) and mental retardation (R).
• Onychodystrophy and anonychia with type B brachydactyly and ectrodactyly: A rare, dominantly inherited disorder characterized abnormal or absent nails, missing fingers, permanently flexed fingers and a broad, finger-like thumb.
• Opitz-Reynolds-Fitzgerald syndrome: A very rare syndrome characterized mainly by extra little fingers, deafness and bone abnormalities of the face.
• Opsismodysplasia: A rare disorder where abnormal bone development results in skeletal abnormalities such as short stature, short limbs and facial abnormalities.
• Opthalmo acromelic syndrome: A very rare syndrome characterized mainly by missing eyes and limb anomalies.
• Oral facial digital syndrome, type 4: A rare inherited disorder characterized by facial, digital and oral abnormalities. Type IV is differentiated from the other types by the presence of severe shinbone deformity.
• Oro acral syndrome: A very rare syndrome characterized mainly by mouth and limb abnormalities.
• Orofaciodigital syndrome type1: A rare genetic disorder characterized by variable malformations of the face, digits and inside the mouth. Type 1 is distinguished from the other types of this condition by the presence of polycystic kidneys and a X-linked dominant inheritance.
• Orofaciodigital syndrome, Shashi type: A rare genetic disorder involving oral, facial and digital abnormalities as well as the absence of the pituitary gland.
• Osteoarthritis: A form of degenerative arthritis due to chronic degeneration
• Osteoarthropathy of fingers, familial: A rare disorder where a disrupted blood supply to the finger bones which results in bone pain and destruction.
• Osteogenesis imperfecta, type VIII: A form of connective tissue disorder involving fragile bones. Type VIII is distinguished from the other types of osteogenesis imperfecta by white sclerae, severely reduced bone mineralization and abnormal metaphyses.
• Osteoglophonic dwarfism: A form of dwarfism characterized by premature fusion of skull bones, short limbs and digits, facial abnormalities and bone development anomalies.
• 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.
• Osteoporosis, severe - shortened long bones - white sclerae: A rare, lethal syndrome characterized by severe osteoporosis, short limbs and white sclerae.
• Oto-Palatal-digital syndrome: A very rare syndrome characterized a variety of abnormalities including skeletal anomalies, distinctive face and cleft palate. There are two types of the disorder (type 1 and 2) with type 2 being more severe.
• Oto-palato-digital syndrome, type 2: A rare genetic disorder characterized by head, face, mouth and bone abnormalities.
• 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.@
• Otopalatodigital Syndrome Type I and II: A rare genetic disorder characterized by ear, palate, skull, face, finger, toe and other skeletal abnormalities.
• Otospondylomegaepiphyseal dysplasia: A rare genetic disorder where abnormal bone growth causes hearing loss, skeletal abnormalities and characteristic facial features.
• Oxytetracycline - Teratogenic Agent: There is evidence to indicate that exposure to Oxytetracycline 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.
• Pachyonychia congenital syndrome: A rare genetic ectodermal disorder characterized by thick nails, thick skin on palms and soles and white patches on tongue and inside of cheek.
• Pachyonychia congenital syndrome type II: A rare genetic ectodermal disorder characterized by thick nails.
• Palant cleft palate syndrome: A rare genetic disorder characterized by a cleft palate, unusual facial features, mental retardation and limb abnormalities.
• Pallister Killian Mosaic Syndrome: Pallister Killian Mosaic Syndrome is a very rare disorder genetic disorder involving abnormalities in chromosome 12. The severity of symptoms is variable and tends to include a wide range of defects and abnormalities.
• Pallister Mosaic Syndrome Tetrasomy 12p: A very rare disorder genetic disorder involving abnormalities in chromosome 12. The severity of symptoms is variable and tends to include a wide range of defects and abnormalities.
• Pallister-Hall Syndrome: A rare genetic disorder characterized by hypothalamic hamartoblastoma, hypopituitarism, imperforate anus and polydactyly.
• Pallister-Ulnar mammary syndrome: A rare genetic condition characterized by extra or missing digits, breast and dental abnormalities.
• Palmoplantar keratoderma punctate, hereditary: An inherited disorder characterized by numerous tiny bumps of thickened skin on the palms and soles. The skin develops numerous hyperkeratototic papules which are usually 1-2 mm in size.
• Paraplegia - brachydactyly - cone-shaped epiphysis: A very rare syndrome characterized mainly by paraplegia, short fingers and bone abnormalities. The paraplegia progresses slowly.
• Partial 7p Monosomy: A rare chromosomal disorder where part of the short arm (p) of chromosome 7 is deleted resulting in various abnormalities which are determined by the size and location of the deleted portion.
• Patel-Bixler syndrome: A rare disorder characterized by the association of abnormal thickening of skin on palms and soles, nail abnormalities and alopecia.
• Pectus excavatum macrocephaly dysplastic nails: A rare syndrome characterized mainly by a sunken chest, large head and abnormal nails.
• Pena Shokeir syndrome, type 1: A rare congenital syndrome involving degeneration of the brain and spinal cord and characterized by facial, head, skeletal and muscular abnormalities. Reduced fetal activity causes many of the problems.
• Pena-Shokeir syndrome Type 2: A rare progressive congenital syndrome involving degeneration of the brain and spinal cord and characterized by facial, head, skeletal and muscular abnormalities as well as eye abnormalities.
• Penicillamine, D - Teratogenic Agent: There is evidence to indicate that exposure to Penicillamine, D 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.
• Penicillin V - Teratogenic Agent: There is evidence to indicate that exposure to Penicillin V during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Pentazocine - Teratogenic Agent: There is evidence to indicate that exposure to Pentazocine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Pernicious anemia: A megaloblastic anaemia due to malabsorption of the vitamin B12
• Peutz-Jeghers Syndrome: A hereditary disorder involving the presence of numerous polyps in the lining of the small intestine and pigmentation around the lips, inside the mouth and on the palms and soles.
• Pfeiffer syndrome: 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.
• 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.
• Phenindione - Teratogenic Agent: There is evidence to indicate that exposure to Phenindione during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Phenobarbital - Teratogenic Agent: There is evidence to indicate that exposure to Phenobarbital during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Phenprocoumon - Teratogenic Agent: There is evidence to indicate that exposure to Phenprocoumon during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Phenylpropanolamine - Teratogenic Agent: There is evidence to indicate that exposure to Phenylpropanolamine 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.
• Phenytoin - Teratogenic Agent: There is evidence to indicate that exposure to Phenytoin during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Phocomelia - contractures - absent thumb: A very rare syndrome characterized mainly by absent thumbs, contractures and missing arm and leg bones.
• Phocomelia ectrodactyly deafness sinus arrhythmia: A very rare syndrome characterized mainly by limb abnormalities, deafness and an abnormal heart rhythm.
• Phocomelia ectrodactyly ear malformation deafness sinus arrhythmia: A very rare syndrome characterized mainly by limb abnormalities, deafness and an abnormal heart rhythm.
• Piepkorn karp hickoc syndrome: A very rare syndrome characterized mainly by short ribs, premature fusion of skull bones and webbed fingers.
• Piroxicam - Teratogenic Agent: There is evidence to indicate that exposure to Piroxicam 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.
• Platyspondylic lethal skeletal dysplasia, Torrance type: A very rare inherited condition involving severe bone growth problems and often resulting in death before or soon after birth.
• Pointer syndrome: A rare syndrome characterized mainly by skeletal abnormalities, permanently flexed fingers, facial anomalies and feeding problems.
• Poland Syndrome: A rare genetic disorder characterized by hand syndactyly and abnormality of one chest muscle.
• Polydactyly: More than the normal number of fingers or toes.
• Polydactyly alopecia seborrheic dermatitis: A very rare disorder characterized by the association of extra digits, alopecia and seborrheic dermatitis.
• Polydactyly cleft lip palate psychomotor retardation: A very rare syndrome described in a small inbred group of families and characterized by bifid toes, extra big fingers, cleft lip or palate and psychomotor retardation. There were various other symptoms that were variably present.
• Polydactyly postaxial dental and vertebral: A very rare syndrome characterized mainly by extra fingers and dental and vertebral abnormalities.
• 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.
• Polydactyly, postaxial - dental and vertebral anomalies: A very rare syndrome characterized mainly by extra fingers and dental and vertebral abnormalities.
• Polyneuropathy - mental retardation - acromicria - premature menopause: A very rare syndrome characterized mainly by premature menopause, sensory impairment, mental retardation and small, delicate facial bones.
• Polysyndactyly - trigonocephaly - agenesis of corpus callosum: A very rare syndrome characterized mainly by webbed fingers, extra fingers, unusual skull shape and abnormal brain development.
• Polysyndactyly orofacial anomalies: A very rare syndrome characterized by the association of webbed digits and oral and facial anomalies. Various other abnormalities may also be present.
• Polysyndactyly overgrowth syndrome: A very rare syndrome reported in one infant and characterized by the association of multiple webbed digits with an overly large body size.
• Polysyndactyly type Haas: A malformation where all the fingers are webbed and there is an extra digit. The webbing did not involve any bone fusion. The feet may have variable degrees of webbing and an extra toe may be present.
• Popliteal pterygium syndrome, lethal type: A rare lethal condition characterized by webbing of skin as well as various other physical and mental abnormalities.
• Primary hypothyroidism: Primary hypothyroidism is a condition in which a defect in the thyroid gland leads to reduced production of thyroid hormone.
• Primary pulmonary hypertension: Primary pulmonary hypertension refers to high blood pressure in the arteries that carry blood to the lungs for no apparent reason. Blood pressure in other parts of the body is normal or sometimes even low.
• Primary pulmonary hypertension - Dexfenfluramine-associated: Dexfenfluramine-associated primary pulmonary hypertension refers to high blood pressure in the blood vessels that carry blood to the lungs as a result of using a diet drug called Dexfenfluramine. Blood pressure in other parts of the body is normal or sometimes even low. Only certain people with a particular genetic anomaly will develop this condition when using the diet drug.
• Primary pulmonary hypertension - Fenfluramine-associated: Fenfluramine-associated primary pulmonary hypertension refers to high blood pressure in the blood vessels that carry blood to the lungs as a result of using a diet drug called Fenfluramine. Blood pressure in other parts of the body is normal or sometimes even low. Only certain people with a particular genetic anomaly will develop this condition when using the diet drug.
• Primidone - Teratogenic Agent: There is evidence to indicate that exposure to Primidone during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• 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.
• Promethazine - Teratogenic Agent: There is evidence to indicate that exposure to Promethazine 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.
• Proud-Levine-Carpenter syndrome: A very rare syndrome characterized mainly by abnormal brain development, a small head and genital abnormalities.
• Proximal subungual onychomycosis: A fungal infection of the nail which tends to start at the nail fold and affects new nail growth. The infection starts on the top of the nail and then spreads deeper into the nail. This form of onychomycosis tends to occur primarily in AIDS patients.
• Pseudoadrenoleukodystrophy: A rare disorder where an enzyme deficiency (Acyl-CoA Oxidase) results in symptoms such as seizures, apnea, delayed psychomotor retardation and neurological deterioration.
• 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.
• Pseudopapilledema - blepharophimosis - hand anomalies: A very rare syndrome characterized mainly by malformations involving the hands, feet ears and face as well as deafness.
• Psoriasis: Chronic skin rash condition, usually red or silver and blistery.
• Pterygia - Mental retardation - Distinctive Craniofacial Features: A very rare syndrome characterized mainly by short stature, underdeveloped genitals and various skull and facial anomalies.
• Pterygium, Popliteal, lethal type: A rare lethal condition characterized by webbing of skin as well as various other physical and mental abnormalities.
• Ptosis strabismus diastasis: A rare genetic disorder characterized by drooping eyelids, strabismus and abdominal muscle defects.
• Pulmonary alveolar proteinosis, congenital: A rare lung disease where protein and fat molecules accumulate in the distant parts of the lungs and affect breathing.
• Pulmonary arterio-veinous aneurysm: A very rare disorder where there is an abnormal opening between a pulmonary artery and vein which can affect blood oxygenation.
• Pulmonary arteriovenous fistula: A rare genetic defect where one or more the arteries and veins in the lung are connected via an abnormal opening or fistula which affects the oxygenation level of body tissues.
• Pulmonary arteriovenous malformation: A rare malformation where there is an abnormal opening between a lung artery and a lung vein which causes some blood to pass through the lungs without being oxygenated.
• Pulmonary fibrosis /granuloma: A lung disease characterized by stiffening and inflammation of lung tissue.
• Pulmonary hypertension: The occurrence of hypertension the blood vessels of the lungs
• Pulmonary hypoxic hypertension: Pulmonary hypoxic hypertension is characterized by high blood pressure and low oxygen levels that result from constriction of the blood vessels leading to the lungs.
• Pulmonary surfactant protein B, deficiency of: A rare lung disease where protein and fat molecules accumulate in the distant parts of the lungs and affect breathing. The disease is called by a deficiency of a the lung surfactant protein B.
• Pulmonary thromboembolic hypertension: Pulmonary thromboembolic hypertension refers to high blood pressure in the blood vessels that carry blood to the lungs due to a blood clot in one of these blood vessels. Blood pressure in other parts of the body is normal or sometimes even low.
• Pycnodysostosis: A rare inherited biochemical disorder involving an enzyme (cathepsin k) deficiency which impairs the processes needed to maintain healthy bones.
• Quinapril - Teratogenic Agent: There is evidence to indicate that exposure to Quinapril during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Rabson-Mendenhall syndrome: A very rare genetic disorder involving severe insulin resistance which is where the body fails to be able to use insulin which is needed to control blood sugar levels.
• Radiation-Induced Brachial Plexopathy: A nerve injury that occurs as a complication of radiation treatment to the upper chest area.
• Radio renal syndrome: A very rare syndrome characterized mainly by kidney, forearm and and thumb abnormalities.
• Radius absent - anogenital anomalies: A very rare syndrome characterized mainly by an absent radius (forearm bone) and anal and genital anomalies.
• Ramipril - Teratogenic Agent: There is evidence to indicate that exposure to Ramipril during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Raynaud's phenomenon: A condition where the body extremities sweat and turn blue and cold. Exposure to cold, emotional stress and smoking may trigger the condition. Also known as acrocyanosis.
• Reardon-Hall-Slaney syndrome: A very rare syndrome characterized mainly by short limbs, cleft palate and permanently flexed fingers.
• Reiter’s syndrome: A form of reactive arthritis characterized by arthritis, urethritis, conjunctivitis and skin lesions.
• Retention of tears - ectrodactyly - ectodermal dysplasia - strange hair, skin and teeth: A rare syndrome characterized by a hand deformity and hair, skin and teeth abnormalities.
• Retinopathy pigmentary mental retardation: A rare genetic condition characterized by degeneration of retinal pigments, cataracts, small head and mental retardation.
• Rheumatoid arthritis: An autoimmune inflammatory condition which primarily affects the joints
• Rhizomelic dysplasia Patterson Lowry type: A very rare syndrome characterized mainly by short upper arm and thigh bones.
• Rhizomelic syndrome: A very rare syndrome characterized mainly by short upper arm and thigh bones. Death frequently occurs in early childhood.
• Richieri Costa Guion-Almeida syndrome: A very rare syndrome characterized mainly by mental retardation, short stature, cleft lip/palate and eye anomalies.
• Rigid mask-like face - deafness - polydactyly: A very rare syndrome characterized mainly by deafness, extra digits and a rigid, mask-like face.
• Roberts-SC Phocomelia: A rare genetic disorder characterized by limb deformities, midfacial defects and severe growth deficiency.
• 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.
• Robinson-Miller-Bensimon syndrome: A very rare syndrome characterized by deafness, malformed nails and other abnormalities.
• Rocky Mountain spotted fever: A bacterial disease caused by Rickettsia rickettsii and transmitted by ticks. The condition causes fever and a characteristic rash and may be fatal in severe or untreated cases.
• Rud Syndrome: A condition characterized by ichthyosis, epilepsy, short stature, hypogonadism and severe mental retardation.
• Ruzicka-Goerz-Anton syndrome: A rare genetic syndrome characterized by rough scaly skin, deafness, mental retardation and skeletal anomalies.
• Saal-Bulas syndrome: A very rare syndrome characterized mainly by lobster-like hands, diaphragmatic hernia and a brain abnormality.
• Saethre-Chotzen Syndrome: A rare genetic disorder characterized by premature joining of certain skull bones during development which has an impact on the shape of the head and face. Features include brachycephaly, ear deformities as well as craniofacial, finger and bone abnormalities.
• Saethre-Chotzen syndrome, chromosome 7 p15.3p21.3: A rare genetic disorder characterized by finger anomalies and premature joining of certain skull bones during development which has an impact on the shape of the head and face. There appears to be considerably variability of symptoms and clinical features of the disorder depending on the exact size and location of the portion of chromosomal material deleted. In this particular form, the chromosomal material deleted is located on chromosome 7 p15.3p21.3.
• Saethre-Chotzen syndrome, chromosome 7 p21.1p21.3: A rare genetic disorder characterized by finger anomalies and premature joining of certain skull bones during development which has an impact on the shape of the head and face. There appears to be considerably variability of symptoms and clinical features of the disorder depending on the exact size and location of the portion of chromosomal material deleted. In this particular form, the chromosomal material deleted is located on chromosome 7 p21.1p21.3.
• Saito-Kuba-Tsuruta syndrome: A very rare syndrome characterized by kidney abnormalities and an abnormal calf bone or forearm bone (ulna). Only a few cases of the syndrome have been reported.
• Sakati syndrome: A rare genetic condition characterized by head and digital anomalies as well as other abnormalities.
• Sallis-Beighton syndrome: A rare inherited syndrome characterized mainly by hand and foot abnormalities.
• Sandrow syndrome: A disorder characterized mainly by hand and foot defects as well as nose abnormalities which affects the ability to breath.
• Say-Field-Coldwell syndrome: A very rare syndrome characterized mainly by fingerlike thumbs and a dislocated kneecap.
• Scabies: Mite infection of the skin common in institutions.
• Scalp - ear - nipple syndrome: A very rare syndrome characterized mainly by scalp, nipple and ear abnormalities.
• Scapulocostal syndrome: Pain in the back and or shoulder that may involve other parts of the arms or chest. The cause is unknown but may be a result of postural problems.
• Schinzel Giedion Syndrome: A rare genetic disorder characterized by many skeletal and genital anomalies, unusual face, mental retardation and kidney malformations.
• Sclerocornea, Syndactyly, ambiguous genitalia: A very rare syndrome characterized mainly by hardening of the corneas, webbed fingers and ambiguous genitalia.
• Scleroderma: A rare, progressive connective tissue disorder involving thickening and hardening of the skin and connective tissue. There are a number of forms of scleroderma with some forms being systemic (involving internal organs).
• Scleroderma, diffuse: A rare autoimmune connective tissue disease where the body attacks parts of the body and causes scarring and thickness of the tissue. In the diffuse form the the disorder, large areas of skin as well as organs are involved. Death can occur.
• Scleroderma, systemic: A rare autoimmune connective tissue disease where the body attacks parts of the body and causes scarring and thickness of the tissue. In the systemic form, the skin and organs are involved.
• Sclerosing bone dysplasia - mental retardation: A rare disorder characterized by abnormal hardening (sclerosis) of the bone and mental retardation.
• Sclerosteosis: A rare genetic disorder characterized by syndactyly and thickening and overgrowth of bone.
• Scott syndrome: A very rare inherited syndrome characterized by head and digital abnormalities as well as mental retardation.
• Seal finger syndrome: A type of finger infection that occurs in people involved with killing and skinning seals. The type of infection is unknown.
• Seckel syndrome: A rare condition characterized by fetal and postnatal growth retardation, mental retardation and characteristic facial features.
• Seckel-like syndrome, type Buebel: A rare syndrome characterized by dwarfism and other abnormalities characteristic of Seckel syndrome as well as hand and foot anomalies.
• Seckle syndrome: A rare genetic disorder characterized by short stature, microcephaly and a prominent nose.
• Secobarbital - Teratogenic Agent: There is evidence to indicate that exposure to Secobarbital during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Secondary hypothyroidism: Secondary hypothyroidism is a condition in which the activity of the thyroid gland is decreased, due to failure of the pituitary gland or hypothalamus
• Secondary pulmonary hypertension: Secondary pulmonary hypertension refers to high blood pressure in the arteries that carry blood to the lungs. Blood pressure in other parts of the body is normal or sometimes even low. The condition may be caused by such things as lung conditions (e.g. emphysema, chronic bronchitis), heart conditions (e.g. congestive heart failure, birth defects involving heart), AIDS or medications such as fenfluramine (a diet drug).
• Sener syndrome: A very rare syndrome characterized mainly by an unusual facial appearance and an unusual condition where there a cystic spaces around blood vessels as they enter the brain.
• Septooptic dysplasia - digital anomalies: A very rare syndrome characterized mainly by finger and toe abnormalities as well as abnormal development of the optic nerve and pituitary gland. Antenatal exposure to sedatives may be a factor in the cause of the disorder.
• Severe achondroplasia with developmental delay and acanthosis nigricans: A very rare inherited disorder characterized by abnormal bone development and brain and skin abnormalities.
• Shell nail syndrome: A syndrome characterized by deterioration of the nail beds, clubbed fingers, inflammation around the bone and bronchiectasis.
• Short rib - polydactyly syndrome: A very rare group of syndrome characterized mainly by short ribs and extra fingers. Often there are other associated abnormalities. The group of syndromes vary in severity and include Ellis Van Creveld's disease and Jeune's thoracic dystrophy as well as other disorders.
• Short rib-polydactyly syndrome, Majewski type: A rare genetic disorder which is a lethal form of short-limb dwarfism and is characterized by short stature, disproportionately short limbs, extra fingers and toes and other deformities.
• Short rib-polydactyly syndrome, Saldino-Noonan type: A rare genetic disorder characterized by short stature, bone formation abnormalities, heart defects and other deformities.
• Short rib-polydactyly syndrome, Verma-Naumoff type: A rare lethal syndrome characterized by abnormal skeleton formation resulting in extra digits, short ribs, short limbs and genital anomalies.
• Short ribs - craniosynostosis - polysyndactyly: A very rare syndrome characterized mainly by short ribs, premature fusion of skull bones and webbed fingers.
• Short stature - contractures - hypotonia: A very rare syndrome characterized mainly by reduced muscle tone, short stature and contractures.
• Short stature - craniofacial anomalies - genital hypoplasia: A very rare syndrome characterized mainly by short stature, underdeveloped genitals and various skull and facial anomalies.
• Short stature - monodactylous - ectrodactyly - cleft palate: A very rare syndrome characterized mainly by short stature, missing fingers and a cleft palate.
• Short stature - talipes - natal teeth: A very rare syndrome characterized mainly by short stature, early tooth eruption, and a foot deformity (talipes).
• Short stature cranial hyperostosis hepatomegaly diabetes: A very rare syndrome characterized mainly by enlarged liver, diabetes, short stature and a thickened skull.
• Short stature locking fingers: A rare syndrome characterized by short stature and episodes of locked finger joints.
• Short stature valvular heart disease characteristic facies: A rare condition characterized by disproportionately short legs, droopy eyelids and heart valve lesions.
• Short stature, cranial hyperostosis, hepatomegaly and diabetes: A very rare syndrome characterized mainly by enlarged liver, diabetes, short stature and a thickened skull.
• Shoulder and thorax deformity, congenital heart disease: A very rare syndrome characterized by shoulder and thorax abnormalities and congenital heart disease.
• Shprintzen-Golberg craniosynostosis: A very rare syndrome characterized by premature fusion of skull bones and a Marfanoid appearance, skeletal anomalies and learning problems.
• Sickle cell anemia: Sickle cell anemia is an inherited blood disorder characterized by red blood cells which are crescent-shaped rather than the normal doughnut shape. These abnormally shaped red blood cells are unable to function normally and tend to undergo premature destruction which leads to anemia. If the genetic defect which causes the condition is inherited from both parents the condition can be quite severe whereas if it is inherited from only one parent, often there are no symptoms. The abnormally shaped red blood cells can cause problems when they clump together and block blood vessels.
• Simethicone - Teratogenic Agent: There is evidence to indicate that exposure to Simethicone 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.
• Simpson-Golabi-Behmel syndrome, type 1 (SGBS1): A rare genetic disorder characterized by accelerated growth, a peculiar face 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.
• Simvastatin - Teratogenic Agent: There is evidence to indicate that exposure to Simvastatin during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Skeletal dysplasia - mental retardation: A rare recessively inherited disorder characterized mainly by mental retardation, a small head, arthrogryposis (joint contractures), cleft palate and various other abnormalities.
• Skeletal dysplasia - orofacial anomalies: A very rare disorder characterized mainly by face, mouth and skeletal abnormalities.
• Sketetal dysplasia coarse facies mental retardation: A rare skeletal disorder where the spine and long bones grow and develop abnormally as well as mental deterioration.
• 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.
• Spherophakia brachymorphia syndrome: A rare genetic disorder characterized by short stature, and craniofacial, eye, tooth and limb abnormalities.
• Spinal Muscular Atrophy type III: Type of SMA, a genetic motor neuron disease affecting nerves and muscles.
• Split hand - split foot: A rare malformation where the middle digits and associated hand or foot bones are missing, giving the hand and foot a split appearance. One or more limbs may be affected and sometimes the remaining digits are webbed which can give them a "lobster-claw" like appearance.
• Split hand/foot malformation X-linked: A rare genetic condition characterized by missing or underdeveloped bones in the hands and feet giving them a split appearance. The deformity is inherited in a X-linked manner.
• Split hand/split foot malformation, autosomal recessive: A rare recessively inherited malformation involving missing or underdeveloped bones in the hands and feet giving them a split appearance.
• Split-hand deformity: A rare genetic disorder where fingers or parts of fingers are missing. It is usually associated with a cleft of the hand which gives the hand a claw-like appearance.
• Spondylocostal dysostosis, Dandy-Walker: A rare syndrome characterized mainly by rib and spine abnormalities as well as the Dandy-Walker anomaly (brain cyst).
• Spondyloepimetaphyseal dysplasia with joint laxity: A rare skeletal disorder where the spine and long bones grow and develop abnormally. Loose joints and severe curvature of the spine is also present. The condition is severe and death in the first couple of decades is common.
• Spondyloepimetaphyseal dysplasia, X linked with mental deterioration: A rare skeletal disorder where the spine and long bones grow and develop abnormally as well as mental deterioration.
• Spondyloepimetaphyseal dysplasia, X-linked: A rare skeletal disorder where the spine and long bones grow and develop abnormally. The trunk and fingers are short.
• Spondyloepimetaphyseal dysplasia, micromelic: A rare skeletal disorder where the spine and long bones grow and develop abnormally. This particular type is characterized by short stature, short limbs and spinal abnormalities.
• Spondyloepiphyseal dysplasia - brachydactyly and distinctive speech: A rare disorder characterized by an unusual voice, characteristic facial appearance and various skeletal abnormalities such as short hands, feet and digits.
• Spondyloperipheral dysplasia - short ulna: A rare inherited disorder characterized by a short forearm bone (ulna) and other skeletal anomalies such as short hands and feet.
• Stevenson-Carey syndrome: A rare syndrome involving various congenital abnormalities and mental retardation.
• Stickler Syndrome: A rare genetic disorder characterized by joint problems, distinctive facial characteristics and eye and ear abnormalities.
• Stoll Levy Francort Syndrome: A very rare syndrome characterized mainly by limb abnormalities, deafness and an abnormal heart rhythm.
• Stratton-Parker syndrome: A very rare syndrome characterized by short stature, heart positioned on the wrong side of the chest (dextrocardia) and a bone development anomaly.
• Stuve-Wiedemann dysplasia: A rare syndrome characterized mainly by short stature, bowed long bones and permanent flexion of fingers.
• Stuve-Wiedemann syndrome: A rare syndrome characterized mainly by short stature, bowed long bones and permanent flexion of fingers.
• 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.
• Sugarman II syndrome: A rare genetic disorder characterized by short fingers and toes due to shortening of the finger and toe bones closest to the palm and sole. Duplication of the big toe is also present
• 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.
• Sumatriptan - Teratogenic Agent: There is evidence to indicate that exposure to Sumatriptan 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.
• Swollen finger: Swelling of a finger
• Symphalangism - brachydactyly - craniosynostosis: A very rare syndrome characterized mainly by the association of short digits, premature fusion of skull bones and fused joints in digits.
• Symphalangism distal: A finger deformity where one or more end joints of fingers or toes are fused. The index finger is the most common digit involved.
• 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.
• Symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch: A very rare syndrome characterized mainly by small teeth, underdeveloped wrist bones and fusion of the joints in the ends of the fingers.
• Syndactyly: Fusion of the fingers in the hand.
• Syndactyly - cataract - mental retardation: A very rare syndrome characterized mainly by webbed fingers and toes, cataract and mental retardation.
• Syndactyly - preaxial polydactyly - sternal deformity: A rare disorder characterized by extra fingers and toes, fusion of fingers and toes and anomalies involving the abdominal and chest wall.
• Syndactyly type 1 - microcephaly - mental retardation: A very rare disorder involving finger and toe abnormalities, a small head, characteristic face and physical and mental retardation. The number of digits involved and extent of webbing between digits is variable as are many of the other features.
• Syndactyly type 5: A birth defect involving webbed fingers and toes - usually between 3rd and 4th fingers and 2nd and 3rd toes. There is also fusion of some of the long bones in the hand (metacarpals) and feet (metatarsals).
• Syndactyly, type 2: A birth defect involving webbing between the 3rd and 4th fingers as well as duplication of all or some of the fourth digit within the webbed tissue. The foot may also be involved with webbing between the 4th and 5th toe with an extra 5th toe in the webbed tissue.
• Syringomyelia, cervical lesion: A slowly-progressing neurological disorder characterized by a fulid-filled cavity in the spinal cord in the neck region.
• TDO type II: A rare genetic ectodermal disorder characterized by kinky hair, tooth enamel and bone abnormalities and differs from type I mainly by a small head and increased long bone density.
• Tabatznik syndrome: A very rare syndrome involving heart and hand abnormalities.
• Tardive dyskinesia: The toxic neurological side effects of neuroleptic drugs that have been used long term.
• Tarsal carpal coalition syndrome: A very rare syndrome characterized mainly by fused ankle and wrist bones.
• Taurodontia - absent teeth - sparse hair: A very rare syndrome characterized mainly by missing teeth, large tooth pulp chambers and sparse hair.
• Taussig Bing syndrome: A very rare birth defect where the aorta and the pulmonary artery both exit from the right ventricle and thus blood is unable to be pumped to the lungs. However, a hole connects the two ventricles and ultimately allows some blood flow to the lungs. In the type III the hole is located just below the pulmonary artery.
• Teebi-Kaurah syndrome: A very rare syndrome characterized mainly by a small head and absent nails.
• Tel-Hashomer camptodactyly syndrome: A very rare syndrome characterized mainly by finger flexion, facial anomalies, short stature and muscle problems.
• Temtamy preaxial brachydactyly syndrome: A rare syndrome characterized by mental retardation, deafness, retarded growth, finger abnormalities and various other anomalies.
• Temtamy syndrome: A rare disorder characterized by a brain abnormality, unusual facial appearance and eye coloboma.
• Terfenadine - Teratogenic Agent: There is evidence to indicate that exposure to Terfenadine 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.
• Tertiary hypothyroidism: Tertiary hypothyroidism results from a malfunction of the hypothalamus, the part of the brain that controls the endocrine system.
• Tetanus toxoid - Teratogenic Agent: There is evidence to indicate that exposure to Tetanus toxoid 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.
• Tetany: Involuntary cramps of the muscles caused by low blood calcium levels.
• Tetracycline - Teratogenic Agent: There is evidence to indicate that exposure to Tetracycline 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.
• Thick nails: hardening of the nail plate
• Thickened nails: A condition which is characterized by thickened nails
• Thiopropazate - Teratogenic Agent: There is evidence to indicate that exposure to Thiopropazate 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.
• Thomas Syndrome: Potter Sequence with cleft lip/palate and cardiac anomalies: A rare condition characterized mainly by heart anomalies, a cleft lip or palate and Potter sequence which is a characteristic physical appearance observed in infants who experienced insufficient amniotic fluid in the womb.
• Thompson-Baraitser syndrome: A very rare syndrome characterized mainly by liver fibrosis, kidney cysts and mental retardation.
• Thoracic outlet syndrome: Pinched shoulder/arm nerve.
• Thumb absence - hypoplastic halluces: A rare syndrome characterized mainly by missing thumbs and underdeveloped big toes.
• Thumb bruise: A haematoma that occurs on the thumb
• Thumb burning sensation: A burning sensation on the thumb
• Thumb coldness: A cold sensation occurring on the thumb
• Thumb deformity, alopecia, pigmentation anomaly: A very rare syndrome characterized mainly by a deformed thumb, lack of hair and abnormal pigmentation.
• Thumb itch: A sensation thatcauses a desire to scratch the skin of the thumb
• Thumb pain: A feeling of distress and agonycaused by the stimulation of pain nerve endings in the thumb
• Thumb paresthesia/ tingling: A loss of sensation located at or around the thumb
• Thumb rash: An eruption on the skin of the thumb.
• Thumb tingling/ paresthesias: A tingling and numbness located in the thumb
• Thyroid agenesis: A rare disorder where the thyroid fails to develop resulting in hypothyroidism from birth.
• 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.
• Timothy syndrome: A rare syndrome characterized by webbed fingers and a heart defect. Most affected individuals die during early childhood or infancy.
• Tinea: A condition which is characterized by an infection caused by a fungus
• Tingling fingers: Finger tingling, prickling or pins-and-needles sensations
• Toenail Rash: Rash occurring on the toenail.
• Toenail bruise: A haematoma that occurs on the toenail
• Toenail pain: Pain affecting a toenail
• Toenail symptoms: Symptoms of the nails on the toes
• Tollner-Horst-Manzke syndrome: A very rare syndrome characterized by extra fingers, cleft lip, cleft palate and abdominal organ anomalies.
• Tolmetin - Teratogenic Agent: There is evidence to indicate that exposure to Tolmetin 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.
• Tooth and nail syndrome: A genetic condition which affects the teeth and nails
• Townes-Brocks Syndrome: A rare condition characterized by anal, hand, foot and ear abnormalities.
• 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.
• Trichinosis: Worm infection usually caught from pigs
• Tricho odonto onycho dermal syndrome: A very rare syndrome characterized by hair, tooth, nail and skin abnormalities.
• Tricho-dento-osseous syndrome: A rare genetic disorder characterized by kinky hair, tooth enamel and bone abnormalities. There are two different subtypes with type I being distinguished from type II by the presence of a small head and increased density in the long bones.
• Tricho-dento-osseous syndrome type I: A rare genetic ectodermal disorder characterized by kinky hair, tooth enamel and bone abnormalities.
• Trichorhinophalangeal syndrome type 1: A rare genetic disorder characterized by bulbous nose, sparse hair and coning of epiphyses.
• Trigonocephaly - bifid nose - acral anomalies: A rare syndrome characterized mainly by a prominent triangular shaped forehead, short head, bulbous nose, small jaw, large mouth, poor muscle tone and foot abnormalities.
• Trigonocephaly - broad thumbs: A rare syndrome characterized mainly by broad thumbs and a prominent triangular shaped forehead.
• Triphalangeal thumb - polysyndactyly syndrome: A very rare syndrome characterized mainly by webbed fingers and a thumb that has three bones instead of the normal two.
• Triploid syndrome: A complete extra set of chromosomes.
• Trisomy 13 mosaicism: A very rare chromosomal disorder where there is an extra copy of chromosome 13 in some of the body's cells. Some cases with this chromosomal abnormality have no clinical symptoms. The presence of abnormalities in some cases is dependent on which body cells contain the chromosomal defect. There appears to be a direct correlation between the number of cells in the body containing the chromosomal defect and severity of symptoms and survival.
• Trisomy 22 mosaicism: A very rare chromosomal disorder where there is an extra copy of chromosome 22 in some of the body's cells. Some cases with this chromosomal abnormality have no clinical symptoms. The presence of abnormalities in some cases is dependent on which body cells contain the chromosomal defect.
• Trisomy 4 mosaicism: A very rare chromosomal disorder where there is an extra copy of chromosome 4 in some of the body's cells. Some cases with this chromosomal abnormality have no clinical symptoms. The presence of abnormalities in some cases is dependent on which body cells contain the chromosomal defect.
• Trisomy 6: A rare chromosomal disorder involving the duplication of chromosome 6 which results in variable symptoms including mental retardation, retarded growth, facial anomalies and various other abnormalities. Full Trisomy 6 is results in spontaneous abortion whereas various degrees of Trisomy 6q can result in syndromes of variable severity depending on the size of the duplication.
• Trisomy 6 mosaicism: A very rare chromosomal disorder where there is an extra copy of chromosome 6 in some of the body's cells. Some cases with this chromosomal abnormality have no clinical symptoms. The presence of abnormalities in some cases is dependent on which body cells contain the chromosomal defect.
• Trisomy 8 mosaicism: A very rare chromosomal disorder where there is an extra copy of chromosome 8 in some of the body's cells. Some cases with this chromosomal abnormality have no clinical symptoms. The presence of abnormalities in some cases is dependent on which body cells contain the chromosomal defect.
• Trueb-Burg-Bottani syndrome: A very rare genetic syndrome characterized by hair, teeth and nail abnormalities as well as webbed fingers.
• Tsukuhara syndrome: A very rare syndrome characterized mainly by a curved spine, premature fusion of skull bones and a small head.
• Tuffli-Laxova syndrome: A rare disorder characterized tooth, nail and skin abnormalities as well as an adrenal cyst.
• Tukel syndrome: A rare syndrome involving restricted eye movement and droopy eyelid and hand deformities affecting primarily the right eye and right hand.
• Turner Syndrome: Rare chromosome syndrome with one X but no second X or Y chromosome.
• Ulnar nerve injury: Damage to the ulnar nerve in the elbow and arm.
• Unusual facies and autosomal dominant hypohidrotic ectodermal dysplasia: A rare syndrome characterized mainly by an unusual facial appearance and hair, nail, teeth and sweating abnormalities.
• Unusual facies, digital anomalies, and supernumerary teeth: A rare, dominantly inherited syndrome characterized mainly by an unusual face, extra teeth and anomalies of the fingers and toes.
• Upton Young syndrome: A syndrome which is characterised by the association of multiple symptoms including mental retardation and multiple nevi
• Urban rogers meyer syndrome: A rare syndrome characterized by mental retardation, short stature, hand contractures, genital anomalies and other abnormalities.
• Uropathy distal obstructive polydactyly: A condition which is characterised by distal obstructive uropathy and polydactyly
• Urophathy distal obstructive polydactyly: A rare syndrome characterized by extra digits and an obstructive urinary system disorder.
• VACTERL association: A rare syndrome characterized by often severe deformities involving the limbs, kidneys, anus, heart, esophagus and spine.
• Vagneur Triolle Ripert syndrome: A condition that is characterised by lymphoedema of the lower extremities and recurrent respiratory system problems
• Valproic acid antenatal infection: A condition which usually occurs in a fetus due to the mother taking valproic acid for epileptic seizures
• Van Maldergem Wetzburger Verloes syndrome: A syndrome characterised by abnormalities of the cerebrum, face, and articular joints.
• Varadi Papp syndrome: A syndrome characterised by deformities of the oral-facial-digital areas
• Varicella Vaccine - Teratogenic Agent: There is evidence to indicate that exposure to Varicella Vaccine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• 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.
• Velocardiofacial syndrome: A genetic disorder which can present with a wide range of phenotypic manifestations which has lead to a number of different names being assigned to the various presentations e.g. DiGeorge Syndrome and Cayler Anomaly Face Syndrome. There are nearly 200 different symptoms that can occur and the severity of the condition is also highly variable depending on the nature and severity of the symptoms that are present.
• Velofacioskeletal syndrome: A ver rare sydnrome characterized mainly by short stature and facial and skeletal abnormalities.
• Venencie Powell Winkelmann syndrome: A congenital condition that is characterised by the occurrence of a number of clinical signs and symptoms
• Ventricular septal defect: An abnormal connection between the 2 lower chambers (ventricles) of the heart.
• Ventruto Digirolamo Festa syndrome: A rare syndrome characterized primarily by premature fusion of skull bones and finger, toe and hip abnormalities.
• Verloes-David Syndrome: An inherited condition characterised by shortness of stature and multiple skeletal abnormalities.
• Viljone Kallis Voges syndrome: A syndrome characterised by microcephaly, short statures, brachydactyly, lowe set ears, prominent nose and mental retardation
• Vohwinkel syndrome: A rare condition where tight bands of thickened skin form around the base of fingers and toes and generally leads to self-amputation of the digit. Hearing loss is also associated with the condition.
• Walbaum Titran Durieux Crepin syndrome: A syndrome characterised by multiple abnormalities
• Warfarin syndrome: Various physical and other abnormalities that can result from the use of the drug Warfarin during the first trimester of pregnancy.
• Weaver Syndrome: A syndrome that is considered a variant of the Marshall-Smith syndrome
• Werner syndrome: A form of premature aging where sufferers start aging during adolescence or soon after and appear old by the time they reach their 30's or 40's. Milder forms of the condition may also occur.
• Whistling face syndrome, recessive form: A rare, recessively inherited syndrome characterized mainly by a characteristic "whistling" face and hand anomalies. The range of symptoms are variable.
• White fingers: The appearance of pale/white fingers.
• White nails: White or pale nails.
• Whitlow: Fingertip soft pad infection
• Wiedemann Oldigs Oppermann syndrome: A rare syndrome characterized mainly by excessive hair growth, mental retardation and skeletal abnormalities.
• Wiedemann-Tolksdorf syndrome: A syndrome involving mental retardation, speech problems, rapid growth, unusual face and finger and toe anomalies.
• Wilkes Stevenson syndrome: A syndrome that is characterised by multiple congenital abnormalities
• Willems De vries syndrome: A syndrome that is characterised by prominent short limbs, subluxed knees and a cleft palate
• Williams Syndrome: A syndrome characterised by mental retardation, facial abnormalities and emotional instability
• Witkop syndrome: A syndrome that is characterised by the occurrence of nail dysplasia and tooth abnormalities due to a mutation in the MSX1 gene
• Wrist symptoms: Symptoms of the wrist area and joint
• X-linked sideroblastic anemia: X-linked sideroblastic anemia is a rare inherited blood disorder characterized by abnormal deposits of iron in the red blood cells which makes them unable to function properly. The body continues to absorb more iron from digesting food in order to try and correct the problem but this simply leads to excessive iron being deposited in body tissues as the it can't use the iron properly. The severity of the condition is variable.
• XK aprosencephaly: An extremely rare condition where the forebrain is absent as well as other abnormalities.
• Yellow nail syndrome: A rare nail condition characterized by thickened yellow nails as well as swelling of parts of the body due to lymphatic drainage problems resulting from blocked or damaged lymphatic system.
• Yunis Varon syndrome: A multisystem genetic disease that affects the skeletal system in particular
• Zellweger Syndrome: Zellweger spectrum disorders are a group of rare, genetic, multisystem disorders that were once thought to be separate entities. These disorders are now classified as different expressions (variants) of one disease process. Collectively, they form a spectrum or continuum of disease. Zellweger syndrome is the most severe form; neonatal adrenoleukodystrophy is the intermediate form; and infantile Refsum disease is the mildest form.
• Zidovudine - Teratogenic Agent: There is evidence to indicate that exposure to Zidovudine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Zimmerman-Laband syndrome: A rare inherited condition characterized by fibrosis of the gums and ear, nose, nail and finger abnormalities.
• Zuclopenthixol - Teratogenic Agent: There is evidence to indicate that exposure to Zuclopenthixol 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.

 » Next page: Surveys

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 Finger symptoms
• 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