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Symptoms » Birth defects » Glossary
 

Glossary for Birth defects

Medical terms related to Birth defects 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.
  • 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.
  • 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.
  • ACE Inhibitors -- Teratogenic Agent: There is strong evidence to indicate that the use of ACE Inhibitors during pregnancy may cause a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Aarskog Syndrome: A rare genetic condition characterized by facial, hand, genital and growth abnormalities.
  • Accutane -- Teratogenic Agent: There is strong evidence to indicate that the use of Accutane during pregnancy may cause a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • 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.
  • 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.
  • 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.
  • Acrorenal syndrome recessive: A rare, recessively inherited disorder characterized by the association of kidney and hand and foot abnormalities.
  • 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.
  • Allain Babin Demarquez syndrome: A rare syndrome characterized by premature fusion of skullbones, abnormal development of skeletal bones and hypertension.
  • 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.
  • 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.
  • Anencephaly: A birth defect where large parts of the brain is missing and the brainstem is malformed.
  • 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 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.
  • 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.
  • Arachnodactyly: Hands and fingers, and feet and toes, are abnormally long and slender.
  • Arm symptoms: Symptoms affecting the arm
  • 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.
  • Atelosteogenesis Type III: A very rare inherited skeletal ossification disorder. Unlike types I and II, survival past infancy is possible in type III.
  • Autoimmune thyroid disease associated Celiac Disease: Patients with autoimmune thyroid disease are more susceptible to developing celiac disease than the average population. Celiac disease is an autoimmune disorder characterized by intolerance to gluten by the small intestine. The type and severity of symptoms varies amongst people - some people have severe gastrointestinal symptoms from infancy whereas other have no symptoms other than fatigue or anemia during adulthood.
  • Baraitser burn fixen syndrome: A rare syndrome characterized mainly by skeletal abnormalities, a skin disorder and an expressionless face.
  • 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.
  • 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.
  • Berndorfer syndrome: A rare syndrome characterized mainly by a cleft palate, harelip and cleft hands and feet.
  • Birth symptoms: Symptoms related to childbirth.
  • Blepharophimosis, ptosis, polythelia and brachydactyly: A rare syndrome characterized mainly by droopy eyelids, short digits, blepharophimosis and accessory nipples (polythelia).
  • 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.
  • 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.
  • 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.
  • Camera-Marugo-Cohen syndrome: A rare syndrome characterized mainly by mental retardation, muscle weakness, obesity and an asymmetrical body.
  • 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.
  • Carpenter syndrome: A rare genetic disorder characterized by premature closing of skull bones, craniofacial abnormalities, heart defects, growth retardation and other disorders.
  • Cat's cry: A chromosomal disorder marked by microcephaly, epicanthal folds, micrognathia, strabismus, mental and physical retardation, and a characteristic catlike whine
  • Childbirth: Symptoms related to childbirth.
  • 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.
  • 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:
  • 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 11, Partial Monosomy 11q: 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.
  • 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, 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 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 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 13, Partial Monosomy 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.
  • 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 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 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 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 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, 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 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, 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 syndrome: A rare chromosomal disorder where the long arm of chromosome 22 is deleted resulting in various abnormalities.
  • Chromosome 2p deletion syndrome: A rare chromosomal disorder where part or all of the short arm (p) of chromosome 2 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
  • Chromosome 2p16.1-p15 Deletion Syndrome: A rare genetic disorder characterized by a range of manifestations including mental retardation and skull and facial anomalies.
  • 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, 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: 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 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 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 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, 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, 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, mosaic trisomy: A very rare chromosomal disorder where there is an extra copy of chromosome 8 in some of the body's cells. Some cases with this chromosomal abnormality have no clinical symptoms. The presence of abnormalities in some cases is dependent on which body cells contain the chromosomal defect.
  • Chromosome 8, partial trisomy: A rare chromosomal disorder where there are three copies of part of chromosome 8 rather than the normal two which results in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is duplicated.
  • Chromosome 8, trisomy: A rare chromosomal disorder where there are three copies of chromosome 8 rather than the normal two which results in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is duplicated.
  • Chromosome 8, trisomy 8p: A rare chromosomal disorder where the short arm (p) of chromosome 8 is duplicated resulting in three copies instead of two. The type and severity of symptoms depends on the location and length of genetic material duplicated.
  • Chromosome 8, trisomy 8q: A rare chromosomal disorder where the long arm (q) of chromosome 8 is duplicated resulting in variable abnormalities depending on the location and length of genetic material deleted.
  • Chromosome 8p 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, Tetrasomy 9p: 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 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 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 conditions: Various genetic conditions where a chromosome is partially or totally misplaced.
  • Chromosome diploid-triploid mosaicism syndrome: A rare chromosomal disorder involving chromosomal duplication, triplication and mosaicism.
  • Cleft palate: This when there is a congenital fissure of the median line of the palate.
  • 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.
  • 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.
  • Collagenous celiac disease: Collagenous celiac disease is used to describe progressive celiac disease characterized by the presence of a layer of collagen (scarring) in the intestinal layers. This form of celiac disease usually fails to respond to treatments such as gluten-free diets. Celiac disease is an autoimmune disorder characterized by intolerance to gluten by the small intestine. The condition usually fails to respond to treatment and has a poor prognosis.
  • Collins-Dennis-Clarke-Pope Syndrome: A very rare condition characterized by congenital hip dislocation, flattened facial appearance and congenital heart defects.
  • 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 conditions: Any condition that you are born with such as birth defects or genetic diseases.
  • 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).
  • Cousin Walbrau Cegarra Syndrome:
  • Cranioacrofacial syndrome: A very rare syndrome characterized mainly by heart, hand, facial and skull anomalies.
  • Craniofrontonasal Syndrome: A congenital condition with multiple anomalies associated with mental retardation and skeletal disfigurement.
  • Craniofrontonasal dysplasia: A rare genetic disorder mainly found in females and characterized by premature closing of skull bones and craniofacial and limb abnormalities.
  • Cri-du-chat syndrome: A rare genetic disorder where a small portion of the short arm (p) of chromosome 5 is missing. The condition is characterized by a high-pitched cry which is similar to a cat's cry.
  • 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.
  • 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.
  • Decreased folate: Decrease in one of the B vitamins required for red blood cell production
  • Del (2) (q24.3-q31): A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in the few reported cases. The manifestations linked to most genetic defects are often variable to some degree.
  • Del (2) (q37.1-qter) and dup (14) (q31.2-qter): A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in two reported cases. The manifestations linked to most genetic defects are often variable to some degree.
  • Deletion 13q: A rare chromosomal disorder where the long arm (q) of chromosome 13 is deleted resulting in various physical, neurological and developmental abnormalities. The type and severity of symptoms is determined by the amount and location of the deleted genetic material.
  • Deletion 13q32: A rare chromosomal disorder where a portion of the long arm (q32) of chromosome 13 is deleted resulting in various physical, neurological and developmental abnormalities. The type and severity of symptoms can vary amongst patients.
  • Deletion 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 5p: A rare chromosomal disorder involving deletion of the genetic material from the short arm (p) of chromosome 5 which results in various abnormalities. The resulting condition is often called Cri-du-Chat Syndrome and features may vary somewhat depending on the size and location of the portion of duplicated genetic material.
  • Deletion 6q: A rare chromosomal disorder where a part of the long arm (q) of chromosome 6 is deleted resulting in various abnormalities depending on the location and length of missing genetic material.
  • Deletion of the Short Arm of Chromosome 1: A condition characterized by deletion of the short arm of chromosome 1
  • 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.
  • Developmental toxicity -- Etretinate: Etretinate (a pharmaceutical drug) is a recognized developmental toxicant and exposure to it has the potential to negatively affect a developing baby. The severity and range of negative effects experienced can vary greatly depending on the chemical, the stage of pregnancy at which the exposure occurred and the duration, level and nature (e.g. inhalation, skin exposure, ingestion) of the exposure. Developmental toxicity can include such things as low birth weight, birth defects, fetal death and behavioral and psychological problems. Sometimes the effects may not manifest until the baby becomes older.
  • 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.
  • Diabetes-like symptoms: Symptoms similar to those of diabetes
  • Dincsoy-Salih-Patel syndrome: A very rare syndrome characterized mainly by a cleft lip and palate, brain abnormality, short limbs and genital abnormalities.
  • 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.
  • Down's syndrome associated Celiac Disease: Patients with Down's syndrome have a high degree of susceptibility to developing celiac disease. Up to 17% of Down's syndrome sufferers develop celiac disease but this rate varies amongst age groups and country of origin. Celiac disease is an autoimmune disorder characterized by intolerance to gluten by the small intestine. The type and severity of symptoms varies amongst people - some people have severe gastrointestinal symptoms from infancy whereas other have no symptoms other than fatigue or anemia during adulthood.
  • 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) (q42-qter) & del (18p): A rare chromosomal disorder which manifests as various physical and mental abnormalities. Patients tend to die within the first couple of decades but the condition is poorly defined.
  • Dup (2) (q32-qter): A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in the few reported cases. The manifestations linked to most genetic defects are often variable to some degree.
  • Dup (3) (pter-p21) and del (18) (q21-qter): A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in two reported cases. The manifestations linked to most genetic defects are often variable to some degree.
  • Dup (3) (pter-p23): A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in fifteen reported cases. The manifestations linked to most genetic defects are often variable to some degree.
  • 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 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 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 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.
  • Ectodermal dysplasia -- arthrogryposis -- diabetes mellitus: A rare syndrome characterized by diabetes, short stature and tooth, hair and nail abnormalities.
  • 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.
  • 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.
  • Escobar syndrome, type B: A rare genetic disorder characterized by a pursed mouth, creased tongue, eye anomalies and a curved spine.
  • FG Syndrome: A rare genetic disorder characterized by anal abnormalities, reduced muscle tone and a prominent forehead.
  • FG syndrome 1: A rare inherited disorder characterized by anal abnormalities, reduced muscle tone and abnormal brain development. In type 1, the genetic defect is located on chromosome Xq12-q21.31.
  • FG syndrome 2: A rare inherited disorder characterized by anal abnormalities, reduced muscle tone and abnormal brain development. In type 2, the genetic defect is located on chromosome Xq28.
  • FG syndrome 3: A rare inherited disorder characterized by anal abnormalities, reduced muscle tone and abnormal brain development. In type 3, the genetic defect is located on chromosome Xp22.3.
  • FG syndrome 4: A rare inherited disorder characterized by anal abnormalities, reduced muscle tone and abnormal brain development. In type 4, the genetic defect is located on chromosome Xp11.4-p11.3.
  • FG syndrome 5: A rare inherited disorder characterized by anal abnormalities, reduced muscle tone and abnormal brain development. In type 5, the genetic defect is located on chromosome Xq22.3.
  • Face symptoms: Symptoms affecting the face
  • Female reproductive symptoms: Symptoms affecting the female reproductive organs.
  • Female reproductive toxicity: There is mounting evidence which indicates that exposure to certain agents may produce adverse reproductive or fetal developmental effects. The possible range of effects includes reduced fertility, low birth weight, childhood cancer, spontaneous abortion and birth defects. Agents which may be implicated in these adverse effects includes anticancer drugs, carbon disulfide, carbon monoxide, lead, pesticides, organic solvents and tobacco smoke.
  • Female reproductive toxicity -- Dioxins: There is limited conflicting evidence which indicates that some women exposed to dioxins may suffer adverse effects as a result. Spontaneous abortion and menstrual disorders and birth defects are the possible adverse effects.
  • Fetal thalidomide syndrome: The maternal use of thalidomide during pregnancy increases the risk of birth defects.
  • Fibrochondrogenesis: A rare genetic disorder characterized by short stature, abnormal bone formation and stillbirth or neonatal death.
  • Folic Acid Deficiency -- Teratogenic Agent: There is evidence to indicate that a deficiency of Folic Acid during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Foot symptoms: Symptoms affecting one or both feet
  • 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.
  • Fountain Syndrome: A very rare inherited disorder involving mental retardation, sensorineural deafness, skeletal defects, coarse facial features and full lips.
  • Fragile-X Syndrome: A rare inherited characterized by various physical anomalies as well as mental retardation. The symptoms are milder in females.
  • Frontometaphyseal dysplasia: A rare genetic disorder characterized by craniofacial abnormalities, skeletal abnormalities, hearing problems and wasting of arm and leg muscles.
  • 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.
  • Genetic Disease: Any disease that is handed down to oneself through the chromosomes of ones parents
  • Gestational diabetes: The occurrence of diabetes that's onset occurs during pregnancy
  • Gigantism partial -- nevi -- hemihypertrophy -- macrocephaly: A rare genetic disorder characterized by overgrowth of bones, fatty tissues and skin in various parts of the body.
  • 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.
  • Glutaric Aciduria, neonatal form of type II A: A more serious neonatal form of glutaricaciduria where there is excessive blood and urine levels of glutaric acid and congenital anomalies may be present.
  • Golden-Lakin syndrome: A rare syndrome characterized by a webbed neck, sunken chest, curved spine and various other abnormalities.
  • 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.
  • Gordon Syndrome: A genetic musculoskeletal disorder characterized mainly by camptodactyly, cleft palate and club foot. The type and severity of symptoms is variable.
  • Graves disease: A condition which is an autoimmune disease that affects the thyroid resulting hyperthyroidism
  • 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.
  • HIV/AIDS: HIV is a sexually transmitted virus and AIDS is the progressive immune failure that HIV causes.
  • Halal syndrome: A very rare syndrome characterized mainly by a small head and a cleft palate.
  • Hand symptoms: Symptoms affecting the hand
  • Hand-foot-uterus syndrome: A rare genetic condition characterized by hand, foot and uterus abnormalities.
  • Hapnes-Boman-Skeie syndrome: A rare disorder where the abnormal attachment of tendons in the fingers prevents them from opening and closing normally.
  • Head symptoms: Symptoms affecting the head or brain
  • Heart symptoms: Symptoms affecting the heart
  • Heart-hand syndrome, Slovenian type: A rare disorder characterized by heart and hand abnormalities.
  • Herpes: Virus with one subtype causing cold sores and another causing genital herpes.
  • 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.
  • Hunter-MacDonald syndrome: A rare syndrome characterized by multiple skeletal abnormalities, short stature, unusual facial features, hearing loss and a predisposition for developing meningiomas.
  • 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.
  • Hyperpigmentation, Cutaneous, With Hypertrichosis, Hepatosplenomegaly, Heart Anomalies, Hearing Loss, And Hypogonadism: A rare syndrome characterized by various skin and nail anomalies as well as other problems.
  • Hyperthermia: Hyperthermia is an increase in body temperature in the context of an unchanged thermoregulatory point in the brain.
  • 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.
  • Idaho syndrome: A very rare syndrome characterized by a variety of abnormalities including clubfoot, mental retardation, finger abnormalities and a congenital heart defect.
  • 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.
  • Jansen type metaphyseal chondrodysplasia: A rare genetic disorder characterized by extremely short stature, unusual face and skeletal and joint abnormalities.
  • 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.
  • 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.
  • Laplane-Fontaine-Lagardere syndrome: A very rare syndrome characterized mainly by very short stature and progressive stiffness of joints including the spine and hips.
  • Le Marec-Bracq-Picaud syndrome: A very rare syndrome characterized mainly by a large head, short arms and clubfoot.
  • Lead poisoning: A type of heavy metal poisoning caused by excessive exposure to lead.
  • Limb symptoms: Symptoms affecting the limbs
  • 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.
  • Lymphocytic choriomeningitis: Rodent-borne viral disease often causing meningitis or encephalitis
  • Macleod-Fraser syndrome: An inherited connective tissue disorder characterized by long thin fingers and contractures involving the knees, elbows, fingers and sometimes other joints.
  • 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.
  • 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, Mietens-Weber type: A very rare genetic condition characterized by mental retardation, corneal opacity, nystagmus, elbow contractures and dwarfism.
  • 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.
  • Mercury -- Teratogenic Agent: There is strong evidence to indicate that exposure to Mercury during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the stage of pregnancy that the exposure occurred at.
  • Mercury poisoning -- Folk Remedies: Various folk remedies and medicines contain inorganic mercury and mercury salts. They can lead to mercury poisoning and severe cases can result in death. Children tend to be more sensitive to the effects of mercury poisoning than adults. Even low levels of exposure can cause neurological symptoms in infants and young children. Fetal exposure to mercury can also result in symptoms.
  • Metabolic disorder: occurs when abnormal chemical reactions occur in the body
  • 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.
  • 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.
  • Microcephaly, hiatal hernia and nephrotic syndrome: A rare genetic disorder primarily involving physical and developmental abnormalities as well as kidney disease.
  • Microphthalmia -- camptodactyly -- mental retardation: A very rare disorder characterized by the association of small eyes, mental retardation and permanently flexed fingers.
  • Mikaelian syndrome: A rare disorder characterized mainly by permanently flexed fingers, deafness and hair and teeth abnormalities.
  • 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.
  • Monosomy 13q32: A rare chromosomal disorder where a portion of the long arm (q32) of chromosome 13 is deleted resulting in various physical, neurological and developmental abnormalities. The type and severity of symptoms can vary amongst patients.
  • 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.
  • 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 synostosis syndrome: A rare genetic disorder characterized by multiple bone fusions involving the face, limbs and middle ear.
  • Myopathy, Congenital, Compton-North: A familial form of congenital muscle disease resulting from a genetic anomaly.
  • 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.
  • 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.
  • Nguyen syndrome: A rare disorder characterized by low blood cholesterol, mental retardation and various congenital anomalies.
  • Nodulosis-arthropathy-osteolysis syndrome: A rare syndrome characterized by joint disease, loss of bone mineral density and nodulosis.
  • Noonan syndrome 3: A genetic condition characterized by short stature, distinctive facial characteristics, learning difficulties, congenital heart conditions and various other anomalies.
  • Obesity: Excessive body weight especially fat.
  • 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.
  • Opthalmo acromelic syndrome: A very rare syndrome characterized mainly by missing eyes and limb anomalies.
  • 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.
  • Palant cleft palate syndrome: A rare genetic disorder characterized by a cleft palate, unusual facial features, mental retardation and limb abnormalities.
  • 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.
  • Parvovirus: A family of viruses that contain the human parvo virus B19
  • 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.
  • Phenylketonuria: A metabolic disorder where there is a deficiency of the enzyme phenylalanine hydroxylase which leads to a harmful buildup of the phenylalanine in the body. Normally the phenylalanine is converted into tyrosine. The severity of the symptoms can range from severe enough to cause mental retardation to mild enough not to require treatment. Severity is determined by the level of impairment of enzyme activity of phenylalanine hydroxylase.
  • Phenytoin -- Teratogenic Agent: There is evidence to indicate that exposure to Phenytoin during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Pointer syndrome: A rare syndrome characterized mainly by skeletal abnormalities, permanently flexed fingers, facial anomalies and feeding problems.
  • Polyploidy: When body cells contains more than 2 copies of each chromosome.
  • Pontocerebellar hypoplasia with infantile spinal muscular atrophy: A rare, recessively inherited disorder characterized by an abnormally small brain and brainstem which manifests as a small head and mental retardation. The disorder is lethal with death usually occurring within the first year. The brain progressively degenerates.
  • Pregnancy symptoms: Symptoms related to pregnancy.
  • Proteus Syndrome: A rare genetic disorder characterized by overgrowth of bones, fatty tissues and skin in various parts of the body.
  • Psychiatric disorders associated Celiac Disease: Patients with Psychiatric disorders are more susceptible to developing celiac disease than the average population. Celiac disease is an autoimmune disorder characterized by intolerance to gluten by the small intestine. The type and severity of symptoms varies amongst people - some people have severe gastrointestinal symptoms from infancy whereas other have no symptoms other than fatigue or anemia during adulthood.
  • 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.
  • Radiation sickness: Illness from radiation exposure or cancer radiotherapy.
  • 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.
  • Reardon-Hall-Slaney syndrome: A very rare syndrome characterized mainly by short limbs, cleft palate and permanently flexed fingers.
  • Refractory Celiac Disease: Refractory Celiac Disease is celiac disease that fails to respond to treatment which involves a gluten-free diet. Celiac disease is an autoimmune disorder characterized by intolerance to gluten by the small intestine. The condition is quite uncommon and often the resulting poor absorption of nutrients from the intestines leads to a poor prognosis.
  • Reproductive toxicity -- Vinyl Chloride: Vinyl Chloride is a suspected reproductive toxicant and exposure to it has the potential to negatively affect the human reproductive system. Vinyl Chloride is used mainly to make PVC products. The severity and nature of the adverse effect is variable and can be influenced by factors such as sex, level of exposure and individual sensitivity to the chemical. Effects on the female reproductive systems can include such things as menstrual problems, altered sexual behavior, infertility, altered puberty onset, altered length of pregnancy, lactation problems, altered menopause onset and pregnancy outcome. Effects on the male reproductive system can include such things as altered sexual behavior, altered fertility and problems with sperm shape or count.
  • Retinopathy pigmentary mental retardation: A rare genetic condition characterized by degeneration of retinal pigments, cataracts, small head and mental retardation.
  • Rh Disease: A disease that can occur when the mother's blood is not compatible with the fetal blood i.e. when an Rh-negative mother had a Rh-positive child. If the baby's blood is exposed to the mother's blood (through placenta, abortion, miscarriage, amniocentesis) the mother's body becomes sensitized and develops antibodies the Rh-positive blood. In future pregnancies, the mother's antibodies can attack the red blood cells of the unborn baby resulting in hemolytic disease. The severity of the disease is variable and can range from mild fetal anemia to severe anemia and even fetal death.
  • Roberts Pseudothalidomide Syndrome:
  • 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.
  • Rud Syndrome: A condition characterized by ichthyosis, epilepsy, short stature, hypogonadism and severe mental retardation.
  • 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.
  • Sallis-Beighton syndrome: A rare inherited syndrome characterized mainly by hand and foot abnormalities.
  • 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.
  • Severe adverse reaction:
  • Short stature valvular heart disease characteristic facies: A rare condition characterized by disproportionately short legs, droopy eyelids and heart valve lesions.
  • Shprintzen-Golberg craniosynostosis: A very rare syndrome characterized by premature fusion of skull bones and a Marfanoid appearance, skeletal anomalies and learning problems.
  • 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.
  • Skin symptoms: Symptoms affecting the skin.
  • 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.
  • Spinal muscular atrophy, type I, with congenital bone fractures: A group of inherited motor neuron diseases involving progressive muscle weakness and wasting due to degeneration of motor neurons in the spinal cord. Bone fractures also occur in newborn infants.
  • 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.
  • Susceptibility to Celiac Disease 1: Susceptibility to celiac disease 1 is a term allocated to a genetic defect on a particular chromosome (chromosome 6p21.3) which makes a patient more susceptible to developing celiac disease. However, it is important to note that having the genetic anomaly does not mean a person will definitely develop celiac disease. Celiac disease is an autoimmune disorder characterized by intolerance to gluten by the small intestine. The type and severity of symptoms varies amongst people - some people have severe gastrointestinal symptoms from infancy whereas other have no symptoms other than fatigue or anemia during adulthood.
  • Susceptibility to Celiac Disease 10: Susceptibility to celiac disease 10 is a term allocated to a genetic defect on a particular chromosome (chromosome 3q25-q26) which makes a patient more susceptible to developing celiac disease. However, it is important to note that having the genetic anomaly does not mean a person will definitely develop celiac disease. Celiac disease is an autoimmune disorder characterized by intolerance to gluten by the small intestine. The type and severity of symptoms varies amongst people - some people have severe gastrointestinal symptoms from infancy whereas other have no symptoms other than fatigue or anemia during adulthood.
  • Susceptibility to Celiac Disease 11: Susceptibility to celiac disease 11 is a term allocated to a genetic defect on a particular chromosome (chromosome 3q28) which makes a patient more susceptible to developing celiac disease. However, it is important to note that having the genetic anomaly does not mean a person will definitely develop celiac disease. Celiac disease is an autoimmune disorder characterized by intolerance to gluten by the small intestine. The type and severity of symptoms varies amongst people - some people have severe gastrointestinal symptoms from infancy whereas other have no symptoms other than fatigue or anemia during adulthood.
  • Susceptibility to Celiac Disease 12: Susceptibility to celiac disease 12 is a term allocated to a genetic defect on a particular chromosome (chromosome 6q25) which makes a patient more susceptible to developing celiac disease. However, it is important to note that having the genetic anomaly does not mean a person will definitely develop celiac disease. Celiac disease is an autoimmune disorder characterized by intolerance to gluten by the small intestine. The type and severity of symptoms varies amongst people - some people have severe gastrointestinal symptoms from infancy whereas other have no symptoms other than fatigue or anemia during adulthood.
  • Susceptibility to Celiac Disease 13: Susceptibility to celiac disease 13 is a term allocated to a genetic defect on a particular chromosome (chromosome 12q24) which makes a patient more susceptible to developing celiac disease. However, it is important to note that having the genetic anomaly does not mean a person will definitely develop celiac disease. Celiac disease is an autoimmune disorder characterized by intolerance to gluten by the small intestine. The type and severity of symptoms varies amongst people - some people have severe gastrointestinal symptoms from infancy whereas other have no symptoms other than fatigue or anemia during adulthood.
  • Susceptibility to Celiac Disease 2: Susceptibility to celiac disease 2 is a term allocated to a genetic defect on a particular chromosome (chromosome 5q31-q33) which makes a patient more susceptible to developing celiac disease. However, it is important to note that having the genetic anomaly does not mean a person will definitely develop celiac disease. Celiac disease is an autoimmune disorder characterized by intolerance to gluten by the small intestine. The type and severity of symptoms varies amongst people - some people have severe gastrointestinal symptoms from infancy whereas other have no symptoms other than fatigue or anemia during adulthood.
  • Susceptibility to Celiac Disease 3: Susceptibility to celiac disease 3 is a term allocated to a genetic defect on a particular chromosome (chromosome 2q33) which makes a patient more susceptible to developing celiac disease. However, it is important to note that having the genetic anomaly does not mean a person will definitely develop celiac disease. Celiac disease is an autoimmune disorder characterized by intolerance to gluten by the small intestine. The type and severity of symptoms varies amongst people - some people have severe gastrointestinal symptoms from infancy whereas other have no symptoms other than fatigue or anemia during adulthood.
  • Susceptibility to Celiac Disease 4: Susceptibility to celiac disease 4 is a term allocated to a genetic defect on a particular chromosome (chromosome 19p13.1) which makes a patient more susceptible to developing celiac disease. However, it is important to note that having the genetic anomaly does not mean a person will definitely develop celiac disease. Celiac disease is an autoimmune disorder characterized by intolerance to gluten by the small intestine. The type and severity of symptoms varies amongst people - some people have severe gastrointestinal symptoms from infancy whereas other have no symptoms other than fatigue or anemia during adulthood.
  • Susceptibility to Celiac Disease 5: Susceptibility to celiac disease 5 is a term allocated to a genetic defect on a particular chromosome (chromosome 15q11-q13) which makes a patient more susceptible to developing celiac disease. However, it is important to note that having the genetic anomaly does not mean a person will definitely develop celiac disease. Celiac disease is an autoimmune disorder characterized by intolerance to gluten by the small intestine. The type and severity of symptoms varies amongst people - some people have severe gastrointestinal symptoms from infancy whereas other have no symptoms other than fatigue or anemia during adulthood.
  • Susceptibility to Celiac Disease 6: Susceptibility to celiac disease 6 is a term allocated to a genetic defect on a particular chromosome (chromosome 4q27) which makes a patient more susceptible to developing celiac disease. However, it is important to note that having the genetic anomaly does not mean a person will definitely develop celiac disease. Celiac disease is an autoimmune disorder characterized by intolerance to gluten by the small intestine. The type and severity of symptoms varies amongst people - some people have severe gastrointestinal symptoms from infancy whereas other have no symptoms other than fatigue or anemia during adulthood.
  • Susceptibility to Celiac Disease 7: Susceptibility to celiac disease 7 is a term allocated to a genetic defect on a particular chromosome (chromosome 1q133) which makes a patient more susceptible to developing celiac disease. However, it is important to note that having the genetic anomaly does not mean a person will definitely develop celiac disease. Celiac disease is an autoimmune disorder characterized by intolerance to gluten by the small intestine. The type and severity of symptoms varies amongst people - some people have severe gastrointestinal symptoms from infancy whereas other have no symptoms other than fatigue or anemia during adulthood.
  • Susceptibility to Celiac Disease 8: Susceptibility to celiac disease 8 is a term allocated to a genetic defect on a particular chromosome (chromosome 2q11-q12) which makes a patient more susceptible to developing celiac disease. However, it is important to note that having the genetic anomaly does not mean a person will definitely develop celiac disease. Celiac disease is an autoimmune disorder characterized by intolerance to gluten by the small intestine. The type and severity of symptoms varies amongst people - some people have severe gastrointestinal symptoms from infancy whereas other have no symptoms other than fatigue or anemia during adulthood.
  • Susceptibility to Celiac Disease 9: Susceptibility to celiac disease 9 is a term allocated to a genetic defect on a particular chromosome (chromosome 3p21) which makes a patient more susceptible to developing celiac disease. However, it is important to note that having the genetic anomaly does not mean a person will definitely develop celiac disease. Celiac disease is an autoimmune disorder characterized by intolerance to gluten by the small intestine. The type and severity of symptoms varies amongst people - some people have severe gastrointestinal symptoms from infancy whereas other have no symptoms other than fatigue or anemia during adulthood.
  • 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).
  • Syphilis: A sexually transmitted disease caused by a bacteria (Treponema pallidum). The condition is often asymptomatic in the early stages but one or more sores may be present in the early stages. Untreated syphilis usually results in remission of visible symptoms but further severe damage may occur to internal organs and other body tissues which can result in death.
  • 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.
  • Thalidomide -- Teratogenic Agent: There is evidence to indicate that exposure to Thalidomide during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • 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.
  • Thyroid agenesis: A rare disorder where the thyroid fails to develop resulting in hypothyroidism from birth.
  • Toxoplasmosis: Infection often caught from cats and their feces.
  • 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.
  • 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.
  • Turner syndrome associated Celiac Disease: Females with Turner syndrome are more susceptible to developing celiac disease than the average population. Celiac disease is an autoimmune disorder characterized by intolerance to gluten by the small intestine. The type and severity of symptoms varies amongst people - some people have severe gastrointestinal symptoms from infancy whereas other have no symptoms other than fatigue or anemia during adulthood.
  • Type 1 diabetes related Celiac Disease: Patients with Type 1 diabetes are more susceptible to developing celiac disease than the average population. Celiac disease is an autoimmune disorder characterized by intolerance to gluten by the small intestine. The type and severity of symptoms varies amongst people - some people have severe gastrointestinal symptoms from infancy whereas other have no symptoms other than fatigue or anemia during adulthood.
  • Upton Young syndrome: A syndrome which is characterised by the association of multiple symptoms including mental retardation and multiple nevi
  • Vagneur Triolle Ripert syndrome: A condition that is characterised by lymphoedema of the lower extremities and recurrent respiratory system problems
  • Van Maldergem Wetzburger Verloes syndrome: A syndrome characterised by abnormalities of the cerebrum, face, and articular joints.
  • 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.
  • Vitamin A overdose: Overdose of Vitamin A usually due to Vitamin A supplement overuse or poisoning.
  • Weaver Syndrome: A syndrome that is considered a variant of the Marshall-Smith syndrome
  • 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.
  • 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
  • William's syndrome associated Celiac Disease: Patients with William's syndrome are more susceptible to developing celiac disease than the average population. Celiac disease is an autoimmune disorder characterized by intolerance to gluten by the small intestine. The type and severity of symptoms varies amongst people - some people have severe gastrointestinal symptoms from infancy whereas other have no symptoms other than fatigue or anemia during adulthood.
  • Women's health symptoms: Symptoms related to women's health.
  • 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.
  • 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.

Conditions listing medical symptoms: Birth defects:

The following list of conditions have 'Birth defects' or similar listed as a symptom in our database. This computer-generated list may be inaccurate or incomplete. Always seek prompt professional medical advice about the cause of any symptom.

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Conditions listing medical complications: Birth defects:

The following list of medical conditions have 'Birth defects' or similar listed as a medical complication in our database.

 

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