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Symptoms » Dysmorphic features » Glossary
 

Glossary for Dysmorphic features

Medical terms related to Dysmorphic features or mentioned in this section include:

  • 2-Hydroxyglutaricaciduria: A rare metabolic disorder characterized by high levels of a certain chemical (2-Hydroxyglutaric) which causes a serious progressive neurological disease and damage to the brain. The features of this disorder are variable and some cases are milder than others.
  • Ambras syndrome: A rare genetic disorder characterized by overgrowth of hair over the whole body, especially the face and shoulders.
  • Behavioral symptoms: Symptoms of personal behavior.
  • Chromosome 22q11.2 microduplication: A rare chromosomal disorder where a part of the chromosome 22 genetic material at the q11.2 location is duplicated resulting in various anomalies ranging from mild to severe amongst different patients.
  • Clonazepam -- Teratogenic Agent: There is evidence to indicate that exposure to Clonazepam during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Cognitive impairment: General loss of mental or cognitive ability
  • Congenital Disorders of Glycosylation Type Ia: A very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 1A involves a phosphomannomutase enzyme defect and affects most body systems especially the nervous system and liver function.
  • Congenital disorder of glycosylation type 1A: A very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 1A involves a phosphomannomutase enzyme defect and affects most body systems especially the nervous system and liver function.
  • Congenital disorder of glycosylation type 1E: A very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 1E has a Dol-P-Man synthase enzyme defect.
  • Congenital disorder of glycosylation type 2A: A very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 2A has a GlcNAc transferase 2 enzyme defect.
  • Congenital disorder of glycosylation type 2B: A very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 2B has glucosidase I enzyme defect.
  • Congenital disorder of glycosylation type X -- Bombay blood group phenotype: A rare inherited disorder characterized by abnormal neutrophil functioning which reduces the body's immunity. The abnormal neutrophils are unable to be transported to sites of infection due to their inability to adhere to certain blood vessel components which would normally lead them to the infection site. Infections may be life-threatening as the body is unable to destroy bacteria effectively. Type 2 LAD is where neutrophils can't adhere to necessary blood vessel components due to the absence of proteins on the blood vessel walls needed to bind and guide the neutrophils to the infection site.
  • Congenital disorder of glycosylation type X -- leukocyte adhesion deficiency syndrome type II phenotype: A very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type X has an unknown enzyme defect.
  • Del (2) (q12-q14): 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.
  • Del (2) (q13-q21): A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in the two reported cases. The manifestations linked to most genetic defects are often variable to some degree.
  • Del (2) (q23.3-q24.2): 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) (q32.1-q34): A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in one reported case. The manifestations linked to most genetic defects are often variable to some degree.
  • Del (2) (q33-q36): A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in one reported case. The manifestations linked to most genetic defects are often variable to some degree.
  • Del (2) (q33-qter): A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in one reported case. The manifestations linked to most genetic defects are often variable to some degree.
  • Del (2) (q37-qter) and del (6) (q27-qter): A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in one reported case. 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.
  • Del (2) (q37.3-qter) and dup (11) (q23.3-qter): A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in one reported case. The manifestations linked to most genetic defects are often variable to some degree.
  • Del (3) (p14.2-p11): 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.
  • Developmental problems: Physical or mental development difficulty.
  • Dup (2) (p11-q14): A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in one reported case. The manifestations linked to most genetic defects are often variable to some degree.
  • Dup (2) (p23-p14): A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in one reported case. The manifestations linked to most genetic defects are often variable to some degree.
  • Dup (2) (p24.2-p21.0): A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in one reported case. The manifestations linked to most genetic defects are often variable to some degree.
  • Dup (2) (pter-p13)): 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 though early death is quite common.
  • Dup (2) (pter-p21): A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in one reported case. The manifestations linked to most genetic defects are often variable to some degree.
  • Dup (2) (q11.2-q14.2): A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in one reported case. The manifestations linked to most genetic defects are often variable to some degree.
  • Dup (2) (q32-qter) and del (20) (pter-p12): A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in one reported case. The manifestations linked to most genetic defects are often variable to some degree.
  • Dup (2) (q33.3-qter), mosaicism with del (2) (pter-p25.3): A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in one reported case. The manifestations linked to most genetic defects are often variable to some degree.
  • Dup (3) (q22-q27): A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in one reported case. The manifestations linked to most genetic defects are often variable to some degree.
  • Face symptoms: Symptoms affecting the face
  • Head symptoms: Symptoms affecting the head or brain
  • Infant symptoms: Symptoms affecting babies and infants.
  • Kalam-Hafeez syndrome: A rare disorder characterized by low parathyroid levels in infants, retarded growth, mental retardation, dysmorphic features and seizures.
  • Klonopin -- Teratogenic Agent: There is evidence to indicate that exposure to Klonopin during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Mevalonic aciduria: A rare disorder of amino acid metabolism characterized by a defect in the enzyme mevalonate kinase.
  • Nerve symptoms: Symptoms affecting the nerves
  • Neural tube defect: Any defect that occurs to the neural tube
  • Rivatril -- Teratogenic Agent: There is evidence to indicate that exposure to Rivatril during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Trisomy 1q44-qter: A rare chromosomal disorder which manifests as mental retardation and other variable features Death can occur early in life. The condition is poorly defined and manifestations are variable.
  • Valproic acid antenatal infection: A condition which usually occurs in a fetus due to the mother taking valproic acid for epileptic seizures
  • Van Regemorter Pierquin Vamos syndrome: A syndrome which is characterised by multiple congenital abnormalities
  • Wiedemann Grosse Dibbern syndrome: A syndrome which is characterized by the association of symptoms such as abnormal facial appearance, short stature and psychomotor retardation.
  • Wilkie Taylor Scambler syndrome: A syndrome characterised by cataracts with microphthalmia and septal defect
  • Wittwer sydnrome: A syndrome that is characterised by the occurrence of growth retardation, blindness, hearing loss, dysmorphic features, epilepsy, mental retardation and the absence of speech
  • Wolf-Hirschorn syndrome: A syndrome characterised by the partial deletion of the short arm of chromosome 4

Conditions listing medical symptoms: Dysmorphic features:

The following list of conditions have 'Dysmorphic features' 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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