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Results 101 - 110 of 2,826 for Congenital defects
  1. Andersen-Tawil syndrome 
    ... paralysis), changes in heart rhythm (arrhythmia), and developmental abnormalities. Periodic paralysis begins early in life, and episodes ... syncope), and even more rarely, sudden death.Physical abnormalities associated with Andersen-Tawil syndrome typically affect the ...
    https://medlineplus.gov/genetics/condition/andersen-tawil-syndrome - Genetics
  2. Nonsyndromic holoprosencephaly 
    Nonsyndromic holoprosencephaly is an abnormality of brain development that also affects the head and face. Normally, the brain divides into two halves (hemispheres) during early ...
    https://medlineplus.gov/.../condition/nonsyndromic-holoprosencephaly - Genetics
  3. Vici syndrome 
    ... affects many body systems. It is characterized by abnormalities of the brain, immune system, heart, skin, and ... characteristic feature of Vici syndrome is a brain abnormality called agenesis of the corpus callosum, in which ...
    https://medlineplus.gov/genetics/condition/vici-syndrome - Genetics
  4. Metatropic dysplasia 
    ... characterized by short stature (dwarfism) with other skeletal abnormalities. The term "metatropic" is derived from the Greek ... This name reflects the fact that the skeletal abnormalities associated with the condition change over time.Affected ...
    https://medlineplus.gov/genetics/condition/metatropic-dysplasia - Genetics
  5. Osteoglophonic dysplasia 
    ... that leads to severe head and face (craniofacial) abnormalities, short stature, and other features. The term osteoglophonic ... dysplasia depends on the extent of the craniofacial abnormalities. People with abnormalities that obstruct the air passages ...
    https://medlineplus.gov/genetics/condition/osteoglophonic-dysplasia - Genetics
  6. 17q12 deletion syndrome 
    ... function of the kidneys and urinary system. These abnormalities range from very severe malformations, leading to kidney ... disorder.Less commonly, 17q12 deletion syndrome also causes abnormalities of the eyes, liver, brain, genitalia, and other ...
    https://medlineplus.gov/genetics/condition/17q12-deletion-syndrome - Genetics
  7. Recombinant 8 syndrome 
    ... is a condition that involves complex congenital heart abnormalities, urinary tract abnormalities, moderate to severe intellectual disability, abnormal muscle tone, ...
    https://medlineplus.gov/genetics/condition/recombinant-8-syndrome - Genetics
  8. CHST3-related skeletal dysplasia 
    ... a genetic condition characterized by bone and joint abnormalities that worsen over time. Affected individuals have short ... present at birth (congenital). Other bone and joint abnormalities can include an inward- and upward-turning foot ( ...
    https://medlineplus.gov/.../chst3-related-skeletal-dysplasia - Genetics
  9. Alport syndrome 
    ... characterized by kidney disease, hearing loss, and eye abnormalities.People with Alport syndrome experience progressive loss of ... develop sensorineural hearing loss, which is caused by abnormalities of the inner ear. Affected individuals may also ...
    https://medlineplus.gov/genetics/condition/alport-syndrome - Genetics
  10. DOORS syndrome 
    DOORS syndrome is a disorder involving multiple abnormalities that are present from birth (congenital). "DOORS" is an abbreviation for the major features of the disorder including deafness; short or absent nails ( ...
    https://medlineplus.gov/genetics/condition/doors-syndrome - Genetics
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