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genetic disorder affecting connective tissue, often causing long limbs

Marfan syndrome is a genetic disorder that affects the body's connective tissue, which provides support, strength, and elasticity to other tissues and organs. It is caused by mutations in the FBN1 gene, which encodes the protein fibrillin-1. People with Marfan syndrome often have long limbs, fingers, and toes, and may experience cardiovascular issues, such as aortic enlargement, as well as eye problems like lens dislocation.

Related Terms

• connective tissue disorder
• genetic disorder
• Ehlers-Danlos syndrome
• Loeys-Dietz syndrome
• Autosomal Dominant Disorder