Alternative Names & Classifications:
Marfan Syndrome (CLINICAL)
Description
Caused by a mutation in the FBN1 gene, this syndrome leads to a defect in the production of fibrillin-1, an essential protein for connective tissue elasticity and strength. It most commonly affects the heart, eyes, blood vessels, and skeleton. Individuals with Marfan syndrome are typically tall and thin with unusually long arms, legs, and fingers.