Marfan's syndrome is a heritable disorder of the connective tissue that affects many organ systems, including the skeleton, eyes, lungs, heart and blood vessels. The Marfan syndrome affects both men and women of any race or ethnic group. It is estimated that at least 200,000 people in the U.S. have the syndrome or a related disorder.

The most serious health problems associated with the Marfan syndrome involve the cardiovascular system. The two leaflets of the mitral valve may billow backwards when the heart contracts. This can lead to leakage of the mitral valve or irregular heart rhythm. In addition, the aorta is generally wider and more fragile in patients with the disorder. This widening is progressive and can cause leakage of the aortic valve or tears in the aorta wall.

Physical characteristics of people with the Marfan syndrome include scoliosis, flat feet, long, bony fingers, abnormally shaped chest, loose jointedness and disproportionate growth usually resulting in tall stature. In addition, many patients are near sighted and 50 percent have dislocation of the ocular lens.

The NMF was founded in 1981 by people affected by the Marfan syndrome and their families. Its purpose is to:

  • Disseminate accurate and timely information about the condition to patients, family members and health care providers.
  • Provide support for patients and their families.
  • Support and foster research.

Since it is so rare, Marfan syndrome can easily go undiagnosed and may result in death if not properly treated. Many famous people are purported to have suffered from the disorder including Abraham Lincoln, Paganini, and Mary, Queen of Scots. The death of Jonathan Larson (composer of Rent) of the Marfan syndrome helped to raise awareness and support for the NMF.

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