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| Definition: | Marfan syndrome is an inheritable disorder of connective tissue (which adds strength to the bodies structures) that affects the skeletal system, cardiovascular system, eyes, and skin.
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| Causes, incidence, and risk factors: | Marfan syndrome is inherited as an autosomal dominant trait. However, up to 30% of cases have no family history and are so called 'sporadic' cases. In sporadic cases, Marfan syndrome is believed to result from a spontaneous new mutation. The incidence is approximately 2 out of 10,000 people in all ethnic groups.
Marfan syndrome causes skeletal defects typically recognized in a tall, lanky person with long limbs and spider-like fingers (arachnodactyly), chest abnormalities (pectus excavatum or pectus carinatum), curvature of the spine and a particular set of facial features including a highly arched palate, and crowded teeth.
Common eye problems are nearsightedness (myopia), and dislocation of the lens of the eye.
The most significant of the defects in the syndrome are cardiovascular abnormalities, which may include enlargement (dilatation) of the base of the aorta (aortic root), with aortic regurgitation, and prolapse of the mitral valve. Affected people may develop a dissecting aortic aneurysm.
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Review Date: 9/1/2001
Reviewed By: David G. Brooks, M.D., Ph.D., Division of Medical Genetics, University of Pennsylvania Medical Center, Philadelphia, PA. Review provided by VeriMed Healthcare Network.
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