¡ Marfan syndrome is an inherited disorder that affects connective tissue — the fibers that support and anchor your organs and other structures in your body.
¡ The protein that plays a role in Marfan syndrome is called fibrillin-1.
¡ Marfan syndrome is caused by a defect (or mutation) in the gene that tells the body how to make fibrillin-1.
¡ This mutation causes problems in connective tissues throughout the body.
¡ Features:
¡ Tall and slender build
¡ Disproportionately long arms, legs, fingers and toes
¡ A breastbone that protrudes outward or dips inward
¡ A high, arched palate and crowded teeth
¡ Heart murmurs
¡ Extreme nearsightedness
¡ An abnormally curved spine
¡ Flat feet
Pages: 1 2