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Marfan syndrome is an inherited disorder that affects connective tissue — the fibers that support and anchor your organs and other structures in your body. Marfan syndrome most commonly affects the heart, eyes, blood vessels and skeleton.
People with Marfan syndrome are usually tall and thin with unusually long arms, legs, fingers and toes. The damage caused by Marfan syndrome can be mild or severe. If your aorta — the large blood vessel that carries blood from your h...
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The signs and symptoms of Marfan syndrome can vary greatly, even among members of the same family, because the disorder can affect so many different areas of the body. Some people experience only mild effects, but others develop life-threatening complications.
Marfan syndrome features may include:
Marfan syndrome is caused by a defect in the gene that enables your body to produce a protein that helps give connective tissue its elasticity and strength.
Most people with Marfan syndrome inherit the abnormal gene from a parent who has the disorder. Each child of an affected parent has a 50-50 chance of inheriting the defective gene. In about 25% of the people who have Marfan syndrome, the abnormal gene comes from neither parent. In these cases, a new mutation develops spontaneously....
While there is no cure for Marfan syndrome, treatment focuses on preventing the various complications of the disease. To accomplish this, you'll need to be checked regularly for signs that the damage caused by the disease is progressing.
In the past, people who had Marfan syndrome often died young. With regular monitoring and modern treatment, most people with Marfan syndrome can now expect to live a more normal life span.
For informational purposes only and not a substitute for professional medical advice, diagnosis, or treatment.
© Mayo Clinic
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