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Results 1 - 10 of 46 for stenosis
  1. Supravalvular aortic stenosis 
    Supravalvular aortic stenosis (SVAS) is a heart defect that develops before birth. This defect is a narrowing (stenosis) of the large blood vessel that carries blood ...
    https://medlineplus.gov/.../condition/supravalvular-aortic-stenosis - Genetics
  2. Retinal arterial macroaneurysm with supravalvular pulmonic stenosis 
    Retinal arterial macroaneurysm with supravalvular pulmonic stenosis (RAMSVPS) is a disorder that affects blood vessels in the eyes and heart. The condition generally becomes apparent in infancy or childhood. ...
    https://medlineplus.gov/...rysm-with-supravalvular-pulmonic-stenosis - Genetics
  3. Critical congenital heart disease 
    Critical congenital heart disease (CCHD) is a term that refers to a group of serious heart defects that are present from birth. These abnormalities result from ...
    https://medlineplus.gov/.../critical-congenital-heart-disease - Genetics
  4. Williams syndrome 
    ... A form of cardiovascular disease called supravalvular aortic stenosis (SVAS) occurs frequently in people with Williams syndrome. Supravalvular aortic stenosis is a narrowing of the large blood vessel ...
    https://medlineplus.gov/genetics/condition/williams-syndrome - Genetics
  5. Myhre syndrome 
    ... such as high blood pressure (hypertension) and narrowing (stenosis) of the heart valves or blood vessels. Other ... Myhre syndrome include narrowing of the windpipe (laryngotracheal stenosis) and the passages leading from the windpipe to ...
    https://medlineplus.gov/genetics/condition/myhre-syndrome - Genetics
  6. Cutis laxa 
    Cutis laxa is a disorder of connective tissue, which is the tissue that provides structure and strength to the muscles, joints, organs, and skin. Most cases ...
    https://medlineplus.gov/genetics/condition/cutis-laxa - Genetics
  7. ELN gene 
    ... gene have been found to cause supravalvular aortic stenosis (SVAS), a blood vessel defect most commonly identified ... disrupted by a translocation associated with supravalvular aortic stenosis. Cell. 1993 Apr 9;73(1):159-68. ...
    https://medlineplus.gov/genetics/gene/eln - Genetics
  8. Achondroplasia 
    ... a potentially serious complication of achondroplasia called spinal stenosis. Spinal stenosis is a narrowing of the spinal canal that ... the upper part of the spinal cord. Spinal stenosis causes with pain, tingling, and weakness in the ...
    https://medlineplus.gov/genetics/condition/achondroplasia - Genetics
  9. Alagille syndrome 
    ... flow from the heart into the lungs (pulmonic stenosis). Pulmonic stenosis may occur along with a hole between the ... dysplasia (AHD) Cardiovertebral syndrome Cholestasis with peripheral pulmonary stenosis Hepatic ductular hypoplasia Hepatofacioneurocardiovertebral syndrome Paucity of interlobular ...
    https://medlineplus.gov/genetics/condition/alagille-syndrome - Genetics
  10. L1 syndrome 
    ... most severe to least, X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS), MASA syndrome, ... bent toward the palms (adducted thumbs), and narrowing (stenosis) of a passageway in the brain called the ...
    https://medlineplus.gov/genetics/condition/l1-syndrome - Genetics
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