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Results 91 - 100 of 1,291 for Congenital defects
  1. Hereditary hemorrhagic telangiectasia 
    ... disorder that results in the development of multiple abnormalities in the blood vessels.In the circulatory system, ... into veins rather than into the capillaries. These abnormalities are called arteriovenous malformations. When they occur in ...
    https://medlineplus.gov/.../hereditary-hemorrhagic-telangiectasia - Genetics
  2. Ochoa syndrome 
    ... that the genetic changes may lead to an abnormality in this brain region that may account for ... smile-neurogenic bladder Partial facial palsy with urinary abnormalities UFS Urofacial Ochoa's syndrome Urofacial syndrome Genetic ...
    https://medlineplus.gov/genetics/condition/ochoa-syndrome - Genetics
  3. Bart-Pumphrey syndrome 
    ... Pumphrey syndrome is characterized by nail and skin abnormalities and hearing loss.People with Bart-Pumphrey syndrome ... soles of the feet (palmoplantar keratoderma). The skin abnormalities generally become noticeable during childhood.The hearing loss ...
    https://medlineplus.gov/genetics/condition/bart-pumphrey-syndrome - Genetics
  4. Cartilage-hair hypoplasia 
    ... characterized by short stature (dwarfism) with other skeletal abnormalities; fine, sparse hair (hypotrichosis); and abnormal immune system ... light-colored skin (hypopigmentation), malformed nails, and dental abnormalities may also be seen in this disorder.The ...
    https://medlineplus.gov/genetics/condition/cartilage-hair-hypoplasia - Genetics
  5. SADDAN 
    ... bone growth characterized by skeletal, brain, and skin abnormalities.All people with this condition have extremely short ... extra skin on the arms and legs. Structural abnormalities of the brain cause seizures, profound developmental delay, ...
    https://medlineplus.gov/genetics/condition/saddan - Genetics
  6. Heterotaxy syndrome 
    ... syndrome accounts for approximately 3 percent of all congenital heart defects. For reasons that are unknown, the condition appears ... as a parent or sibling) who has a congenital heart defect without other apparent features of heterotaxy syndrome. Isolated ...
    https://medlineplus.gov/genetics/condition/heterotaxy-syndrome - Genetics
  7. MED13L syndrome 
    ... or heart abnormalities that are present from birth (congenital heart defects).Intellectual disability and developmental delay are usually moderate ... between the nose and upper lip (philtrum).Different congenital heart defects can occur in MED13L syndrome. Affected individuals may ...
    https://medlineplus.gov/genetics/condition/med13l-syndrome - Genetics
  8. Familial atrial fibrillation 
    Familial atrial fibrillation is an inherited abnormality of the heart's normal rhythm. Atrial fibrillation is characterized by episodes of uncoordinated electrical activity (fibrillation) in the heart's upper ...
    https://medlineplus.gov/.../condition/familial-atrial-fibrillation - Genetics
  9. Microvillus inclusion disease 
    ... Congenital familial protracted diarrhea with enterocyte brush-border abnormalities Congenital microvillous atrophy Davidson disease Familial protracted enteropathy ...
    https://medlineplus.gov/.../condition/microvillus-inclusion-disease - Genetics
  10. COG5-congenital disorder of glycosylation 
    ... inherited condition that causes neurological problems and other abnormalities. The pattern and severity of this disorder's ...
    https://medlineplus.gov/...cog5-congenital-disorder-of-glycosylation - Genetics
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