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C34807Level 7

Marfan Syndrome

**Semantic type:** Disease or Syndrome

**Definition:** A genetic syndrome inherited as an autosomal dominant trait. It is caused by mutations in the FBN1 gene. It is characterized by tall stature, elongated extremities, mitral valve prolapse, aortic dilatation, aortic dissection, and subluxation of the lens.

**Synonyms:** - Marfan syndrome - Marfan's Syndrome - Marfan's Syndrome

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