Marfan's syndrome
Definition:
An inheritable disorder that affects the skeletal system, cardiovascular system, eyes, and to some extent the central nervous system.
Causes, incidence, and risk factors:
Marfan's syndrome is inherited as an autosomal dominant trait. Marfan's syndrome may appear in previously unaffected families as a spontaneous new mutation. The incidence is approximately 1 out of 10,000 people.
Marfan's may cause many skeletal defects but is most notably recognized for a tall, lanky frame with long arms and spider-fingers (arachnodactyly), and chest abnormalities (pectus excavatum or pectus carinatum).
Common eye problems are nearsightedness (myopia) and dislocation of the lens of the eye. The white of the eye (sclera) may appear bluish in Marfan's syndrome as it does in several other diseases with skeletal abnormalities.
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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