Definition

A genetic condition that affects the connective tissue in many organs and tissues in the body, especially the heart, eyes, bones, joints, and blood vessels, including the aorta. People with Marfan syndrome are often tall and thin, have very long arms, legs, fingers, and toes, and have heart and vision problems. Other common signs and symptoms include a long and narrow face, crowded teeth, curved spine, loose joints, stretch marks in the skin, and chest abnormalities. Marfan syndrome may be inherited (passed from parent to child) and is caused by a mutation (change) in a gene called FBN1.