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Diseases » Clubfoot » Glossary

Glossary for Clubfoot

$1q deletion$: 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.
$4p16.3 deletion$: A rare genetic disorder where a portion of chromosome 4 is deleted at a location called 16.3. The condition is characterized by malformations in most parts of the body as the deletion affects growth and development of the fetus.
Aase-Smith I syndrome: A very rare hereditary syndrome characterized by deformities such as joint contractures, anemia, hydrocephalus and cleft palate.
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.
Acro coxo mesomelic dysplasia: A rare inherited form of dwarfism characterized mainly by shortening of the middle and end parts of the limbs.
Acrofacial dysostosis Preis type: One of a group of disorders characterized by defective limb and facial development. The Preis type is very rare and the range and severity of symptoms is variable.
Acromesomelic dysplasia Brahimi Bacha type: A very rare genetic malformation syndrome characterized primarily by developmental abnormalities of the face and skeletal bones.
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.
Adducted thumbs Dundar type: A rare disorder characterized by a thumb abnormality as well as mental retardation, foot defects and other anomalies.
Alajouanine syndrome: A birth disorder characterized mainly by clubfoot, strabismus and facial paralysis. The facial paralysis is caused by damage to the 6th and 7th cranial nerve.
Alprazolam - Teratogenic Agent: There is strong evidence to indicate that exposure to Alprazolam during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. 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.
Amoxicillin - Teratogenic Agent: There is strong evidence to indicate that exposure to Amoxicillin during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
Ampola syndrome: A rare genetic disease characterized primarily by mental retardation, facial anomalies, short stature, seizures and finger and toe abnormalities.
Amyotrophy, neurogenic scapuloperoneal, New England type: An inherited disorder involving muscle wasting and weakness in the shoulder and lower leg. The exact symptoms that occur may vary from patient to patient with males often being more affected than females. An interesting observation of this condition is that symptoms and rate of progression tends to be more severe with each passing generation.
Ankylosis - facial anomalies - pulmonary hypoplasia syndrome: A rare familial syndrome characterized mainly by fused or stiff joints, facial anomalies and underdeveloped lungs.
Annular constricting bands: Bands of amniotic tissue which can constrict parts of the body (especially the limbs) and result in deformity, swelling or even amputation of a body part. The severity and part of the body involved varies from case to case.
Arthrogryposis: A rare congenital disorder characterized by reduced mobility of joints due to the build up of fibrous tissue in the joint.
Arthrogryposis - severe scoliosis: A rare disorder characterized by severe scoliosis and permanent flexion of muscles in the ends of the limbs. Other variable features may alsobe present.
Arthrogryposis multiplex congenita neurogenic type: A rare non-progressive syndrome characterized by congenital contractures that originates from a nerve problem (spinal motor neuron depletion).
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, congenital - myopathic seizures: A rare syndrome characterized by mental retardation and muscle problems.
Ataxia - diabetes - goiter - gonadal insufficiency: A rare disorder characterized by diabetes, goiter, insufficient hormone production by the gonads and progressive ataxia.
Atelosteogenesis Type III: A very rare inherited skeletal ossification disorder. Unlike types I and II, survival past infancy is possible in type III.
Atelosteogenesis, type 2: A very rare inherited skeletal disorder involving the bone and cartilage and resulting in various bone abnormalities.
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.
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.
Bangstad syndrome: A rare disorder characterized by diabetes, goiter, insufficient hormone production by the gonads and progressive ataxia.
Baraitser burn fixen syndrome: A rare syndrome characterized mainly by skeletal abnormalities, a skin disorder and an expressionless face.
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.
Benzthiazide - Teratogenic Agent: There is strong evidence to indicate that exposure to Benzthiazide during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
Biaxin - Teratogenic Agent: There is evidence to indicate that exposure to Biaxin (an antibiotic) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
Bird-headed dwarfism with progressive ataxia, Insulin-resistant diabetes, goiter and primary gonadal insufficiency: A rare disorder characterized by diabetes, goiter, insufficient hormone production by the gonads and progressive ataxia.
Brachycephaly - deafness - cataract - mental retardation: A very rare syndrome characterized mainly by a short head, deafness, cataracts and mental retardation.
Brachycephaly - deafness - cataract - microstomia - mental retardation: A very rare syndrome characterized mainly by a short head, deafness, cataracts and mental retardation.
Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia: A rare syndrome characterized mainly by short digits, extra digits and a small or absent shin bone.
Bruck syndrome: A very rare syndrome characterized primarily by weak, brittle bones and abnormal knee, ankle and foot joints (congenital contractures) at birth. There are two different subtypes of the disorder, each with a different genetic defect origin.
Bruck syndrome, 2: A very rare syndrome characterized primarily by limited joint extension (congenital contractures), weak fragile bones and webbed skin at elbows and knees.
Campomelia Cumming type: A rare syndrome characterized by limb and multiple abdominal organ abnormalities. The disorder results in death before birth or soon after.
Campomelic dwarfism: A rare genetic disorder characterized by bowed tibia, underdeveloped shoulder blades and a flat face.
Campomelic dysplasia: A rare genetic disorder characterized by bowed tibia, underdeveloped shoulder blades and a flat face.
Camptodactyly syndrome, Guadalajara type 1: A rare syndrome characterized mainly by retarded fetal growth and permanently flexed fingers as well as other abnormalities such as short toes, short neck and a small head.
Caudal dysplasia sequence: A rare congenital disorder characterized by abnormal development of the lower spine during the fetal stage.
Cerebellar atrophy with progressive microcephaly: A very rare disorder characterized mainly by a small brain, small head, underdeveloped brain, brain degeneration, contractures, eye problems and seizures.
Cerebro oculo genital syndrome: A very rare syndrome characterized mainly by brain, eye and genital abnormalities.
Cerebrocostomandibular Syndrome: A rare genetic disorder characterized by a very small jaw, abnormal rib development and a small thorax as well as other abnormalities.
Cervical ribs, sprengel anomaly, anal atresia, urethral obstruction: A rare disorder characterized mainly by kidney and urinary system abnormalities, scoliosis and omphalocele. The features of the disorder are variable with male cases tending to be more severe than female cases. Only a few cases of this condition have been reported.
Charcot-Marie-Tooth disease, Type 4B2: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 4B2 has an autosomal recessive inheritance and involves a defect in the CMT4B2 gene on chromosome 11.
Charcot-Marie-Tooth disease, Type 4B2, with early-onset glaucoma: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. This type is characterized by the involvement of glaucoma which starts during childhood.
Charcot-Marie-Tooth disease, type 4: A rare group of demyelinating motor and sensory neuropathies consisting of a number of subtypes. The various subtypes are caused by different genetic defects.
Chlorothiazide - Teratogenic Agent: There is evidence to indicate that exposure to Chlorothiazide ( a diuretic) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
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.
Chromosome 1, monosomy 1p32: A rare chromosomal disorder where deletion of a portion of chromosome 1 causes various abnormalities such as mental retardation, clubfoot an umbilical hernia.
Chromosome 1, trisomy 1q42 qter: A rare chromosomal disorder where duplication of a portion of chromosome 1 causes various abnormalities such as clubfoot, poor muscle tone, neurological dysfunction, short stature, mental retardation and narrowing of the pulmonary arteries and valves.
Chromosome 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 11q duplication syndrome: A rare chromosomal disorder where there are three copies of the long arm (q) of chromosome 11 rather than the normal two resulting in various abnormalities. The type and severity of symptoms depend on the amount and location of genetic material duplicated.
Chromosome 13 ring syndrome: A rare chromosomal disorder where genetic material from one or both ends of chromosome 13 is missing and the two broken ends have rejoined to form a ring. The resulting type and severity of symptoms is determined by the amount and location of genetic material missing.
Chromosome 13q deletion: A rare chromosomal disorder where the long arm (q) of chromosome 13 is deleted resulting in various physical, neurological and developmental abnormalities. The type and severity of symptoms is determined by the amount and location of the deleted genetic material.
Chromosome 13q deletion syndrome: A rare chromosomal disorder where the long arm (q) of chromosome 13 is deleted resulting in various physical, neurological and developmental abnormalities. The type and severity of symptoms is determined by the amount and location of the deleted genetic material.
Chromosome 14q, terminal duplication: A very rare syndrome caused by a duplication of a part of the material on chromosome 14 and resulting in various abnormalities such as retarded growth, hearing loss and mental retardation.
Chromosome 15, trisomy mosaicism: A rare chromosomal disorder where duplication of a portion of chromosome 15 causes various abnormalities such as clubfoot, poor muscle tone, neurological dysfunction and hand abnormalities.
Chromosome 15q duplication mosaicism: A rare chromosomal disorder where duplication of a portion of chromosome 15 in some of the body's cells causes various abnormalities such as clubfoot, poor muscle tone, neurological dysfunction and hand abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is duplicated.
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 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 deletion syndrome: A rare chromosomal disorder where a portion of chromosome 18 is missing.
Chromosome 18q, partial deletion: A rare chromosomal disorder involving deletion of genetic material from the long arm of chromosome 18. The type and severity of symptoms are determined by the amount and location of the lost genetic material.
Chromosome 19 ring syndrome: A rare chromosomal disorder where genetic material from one or both ends of chromosome 19 is missing and the two broken ends have rejoined to form a ring. The resulting type and severity of symptoms is determined by the amount and location of genetic material missing.
Chromosome 19p duplication syndrome: A rare chromosomal disorder where the short arm of chromosome 19 is duplicated resulting in various abnormalities.
Chromosome 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 21 monosomy: A rare chromosomal disorder where there is only one copy of chromosome 21 instead of the normal two leading to various abnormalities.
Chromosome 21q deletion syndrome: A rare genetic disorder where a portion of the genetic material from the long arm of chromosome 21 is missing. The symptoms or severity may vary somewhat between patients.
Chromosome 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 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 5q deletion syndrome: A rare chromosomal disorder where the long arm (q) of chromosome 5 is deleted resulting in various abnormalities.
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 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 7, trisomy 7p: 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 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 8p inverted duplication syndrome: A rare chromosomal disorder involving the inverted duplication of the short arm (p) of chromosome 8 resulting in three copies of the genetic material instead of the normal two. The type and severity of symptoms is determined by the location and size of the duplication.
Chromosome 9 trisomy 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, 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 diploid-triploid mosaicism syndrome: A rare chromosomal disorder involving chromosomal duplication, triplication and mosaicism.
Clarithromycin - Teratogenic Agent: There is evidence to indicate that exposure to Clarithromycin (an antibiotic) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
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.
Clubbing: The proliferation of soft tissue around the ends of fingers and toes
Clubfoot: Congenital foot birth deformity turning the foot inward
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.
Congenital conditions: Any condition that you are born with such as birth defects or genetic diseases.
Cortisone - Teratogenic Agent: There is evidence to indicate that exposure to Cortisone during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
Crane-Heise syndrome: A very rare fatal disorder characterized by numerous abnormalities.
Craniofacial dysostosis - arthrogryposis - progeroid appearence: A very rare syndrome characterized usually caused by fetal exposure to the cytomegalovirus and resulting in features such as short stature, mental retardation, joint movement problems and facial anomalies.
Crixan - Teratogenic Agent: There is evidence to indicate that exposure to Crixan (an antibiotic) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
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.
Cyclothiazide - Teratogenic Agent: There is evidence to indicate that exposure to Cyclothiazide (a diuretic) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
De Grouchy Syndrome: A rare chromosomal disorder where a portion of chromosome 18 is missing. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is deleted.
Deal-Barratt-Dillon syndrome: A very rare syndrome characterized mainly by scaly skin, jaundice, diarrhea and Fanconi syndrome (bone marrow fails to make sufficient new blood cells).
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) (q12-q21.3): A very rare chromosomal disorder where a portion of the long arm (q12-q21.3) of chromosome one is missing.
Del(1) (q24-q25.3): A very rare chromosomal disorder where a portion of the long arm (q24-q25.3) of chromosome one is missing. The type and severity of symptoms is variable.
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 18q: A rare chromosomal disorder where a portion of chromosome 18 is missing. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is deleted.
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.
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.
Diastrophic dysplasia: A rare genetic disorder characterized by short stature as well as skeletal, spine and ear abnormalities.
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.
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.
Distal arthrogryposis, Moore-Weaver type: A rare disorder characterized mainly by clenched fists, permanent flexion of toes and fingers and head and facial abnormalities.
Disulfiram - Teratogenic Agent: There is evidence to indicate that exposure to Disulfiram during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
Diuril - Teratogenic Agent: There is evidence to indicate that exposure to Diuril ( a diuretic) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
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.
Duane-radial ray syndrome: A very rare inherited disorder characterized by impaired control of eye movement and bone abnormalities in the hands and feet.
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)(pter-p31) and del(2)(q33-qter): A very rare chromosomal disorder where a portion of the short arm (pter-p31) of chromosome one is duplicated and a portion of the long arm (q33-qter) of chromosome 2 is deleted. The reported patient died at 3 months of age.
Dup(1) (p31-p21): A very rare chromosomal disorder where a portion of the short arm (p31-p21) of chromosome one is duplicated. The type and severity of symptoms is variable.
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 7p: 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.
Dysplastic cortical hyperostosis: A very rare syndrome characterized mainly by abnormal bone and brain development.
Ecstacy - Teratogenic Agent: There is evidence to indicate that exposure to Ecstacy during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
Ectodermal dysplasia - arthrogryposis - diabetes mellitus: A rare syndrome characterized by diabetes, short stature and tooth, hair and nail abnormalities.
Ellis-van Creveld syndrome:
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.
Ephedrine - Teratogenic Agent: There is evidence to indicate that exposure to Ephedrine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
Epiphyseal dysplasia, multiple, 4: An inherited bone and cartilage disorder which is usually mild enough to go undiagnosed.
Ergotamine - Teratogenic Agent: There is evidence to indicate that exposure to Ergotamine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
Erythromycin - Teratogenic Agent: There is evidence to indicate that exposure to Erythromycin (an antibiotic) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
Esophageal Atresia, Coloboma, Clubfoot: A rare condition characterized by the association of eye coloboma, clubfoot and atresia of the esophagus.
Eye defects - arachnodactyly - cardiopathy: A rare syndrome characterized mainly by eye defects, long, thin fingers and heart disease.
Faciocardiomelic dysplasia, lethal: A very rare lethal syndrome characterized by facial, heart and skeletal abnormalities.
Fanconi-ichthyosis-dysmorphism: A very rare syndrome characterized by scaly skin (ichthyosis), anemia, muscle anomalies and various other abnormalities. All six reported cases died within 6 months.
Femoral facial syndrome: A rare genetic disorder characterized by underdeveloped femur, short nose and cleft palate.
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.
Fenfluramine - Teratogenic Agent: There is evidence to indicate that exposure to Fenfluramine (a weight loss 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.
Fetal aminopterin syndrome: A rare disorder which produces multiple abnormalities and results from a failed abortion attempt using the drugs aminopterin and methotrexate.
Fibular hypoplasia or aplasia - femoral bowing - oligodactyly: A rare syndrome characterized mainly by abnormalities involving the thighbone, fingers and fibula (calf bone).
Fine-Lubinsky syndrome: A very rare syndrome characterized mainly by a short head, deafness, cataracts and mental retardation.
Foot conditions: Any condition that may affect the foot
Foot symptoms: Symptoms affecting one or both feet
Frank-Ter Haar syndrome: A rare genetic bone disorder characterized by skeletal abnormalities, enlarged corneas and characteristic facial abnormalities.
Freeman-Sheldon Syndrome: A very rare genetic disorder characterized by abnormal development of the skeleton and muscles.
Fried-Goldberg-Mundel syndrome: A rare syndrome characterized mainly by leg malformations and an abnormally positioned urethral opening (hypospadias) in males.
Friedreich's ataxia: Progressive muscle weakness from nerve damage.
Froster-Iskenius-Waterson syndrome: A rare syndrome characterized by multiple joint contractures at birth, hyperthermia and twisting of neck muscles.
Fryns-Fabry-Remans syndrome: A rare syndrome characterized by the progressive fusion of the front of the vertebrae as well as the excessive growth of the whole body.
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).
Gentamicin - Teratogenic Agent: There is evidence to indicate that exposure to Gentamicin (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.
Gordon Syndrome: A genetic musculoskeletal disorder characterized mainly by camptodactyly, cleft palate and club foot. The type and severity of symptoms is variable.
Hecht syndrome: A rare genetic disorder characterized by the inability to open the mouth due to short muscles as well as hand movement abnormalities also due to shortened muscles.
Herrmann Opitz arthrogryposis syndrome: A very rare syndrome characterized mainly by contractures, skeletal abnormalities and short stature.
Hoon-Hall syndrome: A very rare syndrome characterized mainly by dislocated joints and various other skeletal abnormalities.
Humerospinal dysostosis - congenital heart disease: A very rare syndrome characterized mainly by various skeletal defects and heart disease which is present at birth.
Hydrochlorothiazide - Teratogenic Agent: There is evidence to indicate that exposure to Hydrochlorothiazide during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
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).
Hypoplastic thumbs - hydranencephaly: A very rare syndrome characterized mainly by underdeveloped thumb and abnormal brain development where the cerebral space is filled with cerebrospinal fluid instead of brain tissue.
Idaho syndrome: A very rare syndrome characterized by a variety of abnormalities including clubfoot, mental retardation, finger abnormalities and a congenital heart defect.
Imaizumi Kuroki syndrome: A very rare syndrome characterized mainly by premature skull fusion and forearm abnormalities.
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.
Indigo Carmine - Teratogenic Agent: There is evidence to indicate that exposure to Indigo Carmine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
Infex - Teratogenic Agent: There is evidence to indicate that exposure to Infex (an antibiotic) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
Insulin - Teratogenic Agent: There is evidence to indicate that exposure to Insulin during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
Isoproterenol - Teratogenic Agent: There is evidence to indicate that exposure to Isoproterenol during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
Jequier-Kozlowski-skeletal dysplasia: A very rare syndrome characterized mainly by various skeletal abnormalities and facial anomalies.
Klaricid - Teratogenic Agent: There is evidence to indicate that exposure to Klaricid (an antibiotic) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
Kosztolanyi syndrome: A very rare syndrome characterized mainly by severely retarded development, long thin fingers, mental retardation and skull and facial abnormalities.
Kozlowski Celermajer Tink syndrome: A very rare syndrome characterized by the association of heart disease with a short upper arm bone and spinal anomalies. There are also other variable symptoms.
Kozlowski-Celermajer syndrome: A rare disorder characterized by congenital heart disease and spine and upper arm bone abnormalities.
Kurczynski-Casperson syndrome: A very rare syndrome characterized mainly by premature fusion of skull bones, abnormal ears and webbing of the last two toes.
Lambert syndrome: A rare syndrome characterized by a club foot, inguinal hernia, biliar atresia and branchial dysplasia.
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.
Lateral body wall complex: A very rare syndrome characterized involving the absence of the whole or part of an arm or leg as well as a severe defect of the abdominal wall. Death often occurs at birth.
Le Marec-Bracq-Picaud syndrome: A very rare syndrome characterized mainly by a large head, short arms and clubfoot.
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.
Lethal chondrodysplasia, Moerman type: A very rare lethal syndrome characterized mainly by abnormal bone development.
Lissencephaly type III - metacarpal bone dysplasia: A rare syndrome characterized by an abnormally smooth brain as well as abnormal bone development in the hands.
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.
Low birth weight - dwarfism - dysgammaglobulinemia: A very rare syndrome characterized mainly by low birth weight, short stature and a immune system abnormality.
MDMA - Teratogenic Agent: There is evidence to indicate that exposure to MDMA during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
Marden-Walker Syndrome: A rare genetic disorder characterized by blepharophimosis, joint contractures and fixed facial expression.
Marden-Walker-like syndrome: A very rare syndrome characterized mainly by long, thin fingers, contractures from birth and narrow eye slits.
Massa-Casaer-Ceulemans syndrome: A very rare syndrome characterized mainly by abnormal brain development (lissencephaly - smooth brain) and multiple joint contractures at birth.
Meckel Syndrome: A rare genetic disorder involving numerous abnormalities and characterized by death within the first few weeks.
Megarbane syndrome: A very rare disorder characterized by short stature, loose joints, hernias, facial abnormalities and severe psychomotor retardation.
Mental retardation - hip luxation - G6PD variant: A very rare syndrome characterized mainly by mental retardation, partially dislocated hips and an enzyme defect (G6PD).
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 unusual facies ampola type: A rare genetic disease characterized primarily by mental retardation, facial anomalies, short stature, seizures and finger and toe abnormalities.
Mental retardation, Wolff type: A very rare syndrome characterized mainly by severe mental retardation and facial anomalies. The parents came from the same bloodline.
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.
Methocarbamol - Teratogenic Agent: There is evidence to indicate that exposure to Methocarbamol during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
Methotrexate - Teratogenic Agent: There is evidence to indicate that exposure to Methotrexate during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
Methyclothiazide - Teratogenic Agent: There is evidence to indicate that exposure to Methyclothiazide during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
Metolazone - Teratogenic Agent: There is evidence to indicate that exposure to Metolazone during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
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.
Microcephalic osteodysplastic dysplasia, Saul-Wilson type: A rare skeletal disorder characterized by various abnormalities including short stature, short digits, cataracts and small head.
Microcephaly - seizures - mental retardation - heart disorders: A very rare syndrome characterized mainly by a small head, seizures, mental retardation and heart disorders.
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.
Minocycline - Teratogenic Agent: There is evidence to indicate that exposure to Minocycline during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
Misoprostol - Teratogenic Agent: There is evidence to indicate that exposure to Misoprostol during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
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.
Morse-Rawnsley-Sargent syndrome: A very rare syndrome characterized mainly by abnormal brain development and reduced fetal movement.
Multicore disease: A nonprogressive congenital muscle disease which mainly involves weakness of the proximal muscles. The severity of symptoms is variable.
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.
Nail-Patella Syndrome: A rare inherited disorder characterized by small or absent kneecap and ridged and/or absent nails as well as other abnormalities
Nasopharyngeal teratoma with Dandy-Walker - diaphragmatic hernia: A very rare syndrome characterized mainly by a nasopharyngeal tumor, diaphragmatic hernia and the Dandy-Walker anomaly (brain cyst).
Neomycin - Teratogenic Agent: There is evidence to indicate that exposure to Neomycin during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
Nievergelt syndrome: A rare inherited bone disease which causes abnormalities in the lower leg and lower arm bones as well as dwarfism and digit anomalies.
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.
Oligohydramnios: A deficiency in the amount of amniotic fluid in the gestational sac during pregnancy
Omeprazole - Teratogenic Agent: There is evidence to indicate that exposure to Omeprazole during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
Opitz-Reynolds-Fitzgerald syndrome: A very rare syndrome characterized mainly by extra little fingers, deafness and bone abnormalities of the face.
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.
Osteogenesis imperfecta - congenital joint contractures: A very rare syndrome characterized primarily by weak, brittle bones and abnormal knee, ankle and foot joints (congenital contractures) at birth. There are two different subtypes of the disorder, each with a different genetic defect origin: Bruck Syndrome 1 and Bruck Syndrome 2.
Otoonychoperoneal syndrome: A very rare syndrome characterized mainly by underdeveloped ears and nails, shoulder anomalies and straight collarbones.
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.
Papaverine - Teratogenic Agent: There is evidence to indicate that exposure to Papaverine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
Paramethadione - Teratogenic Agent: There is evidence to indicate that exposure to Paramethadione during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
Paroxetine - Teratogenic Agent: There is evidence to indicate that exposure to Paroxetine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
Pelvic dysplasia arthrogryposis of lower limbs: A very rare syndrome characterized mainly by pelvic anomalies and joint contractures involving the legs.
Penicillamine - Teratogenic Agent: There is evidence to indicate that exposure to Penicillamine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
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.
Peroxisomal bifunctional enzyme deficiency: A rare disorder involving abnormal steroid metabolism due to an enzyme 17-beta-hydroxysteroid dehydrogenase 4) deficiency. The symptoms which make the condition appear very similar to another condition called neonatal adrenoleukodystrophy.
Phenylephrine - Teratogenic Agent: There is evidence to indicate that exposure to Phenylephrine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
Pitt-Hopkins syndrome: A very rare syndrome characterized mainly by mental retardation with periods of overbreathing and apnea.
Pizotifen - Teratogenic Agent: There is evidence to indicate that exposure to Pizotifen during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
Plum syndrome: A very rare syndrome characterized mainly by eye, brain and bone abnormalities.
Polythiazide - Teratogenic Agent: There is evidence to indicate that exposure to Polythiazide during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
Prednisone - Teratogenic Agent: There is evidence to indicate that exposure to Prednisone during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
Progestagen - Teratogenic Agent: There is evidence to indicate that exposure to Progestagen during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
Prosencephaly - cerebellar dysgenesis: A very rare condition involving abnormal development of the forebrain.
Prune belly syndrome: A congenital condition where an infant is born without muscles in the front abdominal wall giving the loose skin a wrinkled, prune-like appearance.
Pseudoephedrine - Teratogenic Agent: There is evidence to indicate that exposure to Pseudoephedrine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
Quinethazone - Teratogenic Agent: There is evidence to indicate that exposure to Quinethazone during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
Radial defect - Robin sequence: A very rare syndrome characterized mainly by abnormal forearm bone, club foot, finger and toe abnormalities and a cleft palate.
Radio digito - facial dysplasia: A very rare syndrome characterized mainly by abnormalities of the arm bones and facial anomalies.
Radio renal syndrome: A very rare syndrome characterized mainly by kidney, forearm and and thumb abnormalities.
Ranitidine - Teratogenic Agent: There is evidence to indicate that exposure to Ranitidine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
Ray-Peterson-Scott syndrome: A very rare syndrome characterized mainly by pelvic anomalies and joint contractures involving the legs.
Renal dysplasia - limb defects syndrome: A very rare syndrome characterized mainly by abnormal kidney development and various arm bone defects.
Richieri-Costa-Silveira-Pereira syndrome: A very rare syndrome characterized mainly by short stature, hand anomaly, clubfoot a cleft palate and various other abnormalities.
Sacral agenesis: A very rare syndrome characterized mainly by the abnormal development of the tailbone (sacrum).
Sandhaus Ben-Ami syndrome: A rare disorder characterized by an underdeveloped kneecap and other skeletal abnormalities.
Sandrow syndrome: A disorder characterized mainly by hand and foot defects as well as nose abnormalities which affects the ability to breath.
Scapuloperoneal myopathy: An inherited disorder involving muscle wasting and weakness in the shoulder and lower leg.
Scapuloperoneal syndrome, neurogenic type: An inherited disorder involving muscle wasting and weakness in the shoulder and lower leg. The legs are often affected first.
Scapuloperoneal syndrome, neurogenic, Kaeser type: An inherited disorder involving muscle wasting and weakness in the shoulder and lower leg. The legs are often affected first.
Schinzel Giedion Syndrome: A rare genetic disorder characterized by many skeletal and genital anomalies, unusual face, mental retardation and kidney malformations.
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.
Short limb dwarfism, Al Gazali type: A very rare lethal disorder involving severe limb shortening and other skeletal deformities.
Short stature - Robin sequence - cleft mandible - hand anomalies - clubfoot: A very rare syndrome characterized mainly by short stature, a cleft in the lower jaw, hand anomalies, club foot and mouth abnormalities (Robin sequence).
Short stature - talipes - natal teeth: A very rare syndrome characterized mainly by short stature, early tooth eruption, and a foot deformity (talipes).
Shprintzen-Golberg craniosynostosis: A very rare syndrome characterized by premature fusion of skull bones and a Marfanoid appearance, skeletal anomalies and learning problems.
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.
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.
Spinal Muscular Atrophy: A rare condition characterized by progressive degeneration of the spinal and brainstem motor neurons. During fetal development excess primary neurons are formed. The body automatically destroys the extra primary neurons so that only some survive and mature into neurons. In spinal muscular dystrophy, the process that destroys the excess primary neurons doesn't switch off and continues destroying the neurons resulting in progressive motor problems. Various types of the condition range from mild to severe enough to cause death within a couple of years of birth.
Spondylocostal dysostosis, Dandy-Walker: A rare syndrome characterized mainly by rib and spine abnormalities as well as the Dandy-Walker anomaly (brain cyst).
Spondylocostal dysplasia dominant: A rare, dominantly inherited syndrome characterized mainly by rib and spine abnormalities.
Spondyloepimetaphyseal dysplasia joint laxity: A very rare syndrome characterized by abnormal bone growth involving severe scoliosis and loose joints.
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.
Spondylohypoplasia arthrogryposis popliteal pterygium: A very rare inherited syndrome characterized by webbing at the back of the knees, spinal defects and various other skeletal abnormalities.
Spondylohypoplasia, arthrogryposis and popliteal pterygium: A very rare inherited syndrome characterized by webbing at the back of the knees, spinal defects and various other skeletal abnormalities.
Standing symptoms: Symptoms related to standing upright
Streptomycin - Teratogenic Agent: There is evidence to indicate that exposure to Streptomycin during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
Sulfasalazine - Teratogenic Agent: There is evidence to indicate that exposure to Sulfasalazine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
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.
TAU syndrome: A very rare syndrome characterized mainly by reduced blood platelet level and absent ulna bone (forearm bone).
Talipes equinovarus: A congenital foot deformity where the end of the foot is abnormally angled, usually inwards and downwards. It often occurs due to crowding in the womb. The foot is unable to be placed flatly on the ground.
Tel-Hashomer camptodactyly syndrome: A very rare syndrome characterized mainly by finger flexion, facial anomalies, short stature and muscle problems.
Terpin hydrate - Teratogenic Agent: There is evidence to indicate that exposure to Terpin hydrate during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
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.
Tetraploidy: A very rare chromosomal disorder which results in various abnormalities. Infants are usually stillborn or die within months of birth.
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.
Thoracolimb dysplasia, Rivera type: A very rare syndrome characterized mainly by chest and limb abnormalities.
Tibia absent - polydactyly - arachnoid cyst: A very rare syndrome characterized mainly by extra fingers, an absent shinbone and a brain cyst.
Tolbutamide - Teratogenic Agent: There is evidence to indicate that exposure to Tolbutamide during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
Triaminic - Teratogenic Agent: There is evidence to indicate that exposure to Triaminic during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
Trichlormethiazide - Teratogenic Agent: There is evidence to indicate that exposure to Trichlormethiazide during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
Trimethadione - Teratogenic Agent: There is evidence to indicate that exposure to Trimethadione during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
Triploid syndrome: A complete extra set of chromosomes.
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.
VACTERL with hydrocephalus, X-linked: A rare X-linked syndrome characterized by the VACTERL abnormalities (vertebral anomalies, anal atresia, congenital cardiac disease, tracheoesophageal fistula, renal anomalies, radial dysplasia, limb defects) as well as a buildup of fluid inside the skull (hydrocephalus).
Valproic Acid - Teratogenic Agent: There is evidence to indicate that exposure to Valproic Acid during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
Varicella virus antenatal infection: The infection of a mother with the varicella virus whilst she is pregnant
Vinblastine - Teratogenic Agent: There is evidence to indicate that exposure to Vinblastine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
Vincristine - Teratogenic Agent: There is evidence to indicate that exposure to Vincristine during pregnancy and even the during the year leading up to the pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
Weaver Syndrome: A syndrome that is considered a variant of the Marshall-Smith syndrome
Weaver like syndrome: A rare genetic syndrome characterized by a large mouth, unusual facial features, skeletal anomalies and other abnormalities. The disorder is similar to another genetic disorder called Weaver syndrome but tends to involve endocrinologic abnormalities as well.
X-linked mental retardation craniofacial abnormal microcepahly club: An x-linked condition that is characterised by mental retardation and dysmorphic facies
X-linked mental retardation craniofacial abnormal microcephaly club: A rare inherited disorder characterized by mental retardation, small head, club foot and facial and skull abnormalities. The condition is inherited in a X-linked manner and thus only males present with the full severity of the symptoms. Female carriers may be mildly symptomatic or have no symptoms at all.
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.
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.