Marfan's syndrome is a rare, inherited disorder involving the body’s connective tissues. It primarily affects the musculoskeletal system, the cardiovascular system and the eyes. The diagnosis can be made in newborns, however, signs or symptoms sometimes do not become apparent until adolescence or young adulthood. It occurs in males and females equally.
Causes of Marfan Syndrome
Marfan's syndrome is a genetic mutation in about 85% of cases. The defective gene is thought to be on chromosome 15. The remaining cases has no known cause.
Signs and Symptoms of Marfan Syndrome
The appearance of someone with Marfan's syndrome is stereotypical. They are of tall stature, with a thin, gangly body. They often have disproportionately long limbs and long, thin fingers, arachnodactyly. The may be a deformity of the chest in the midline. Frequently, there are loose or weak joints and the person appears "double jointed". The palate in the mouth is extremely high. There are a number of symptoms that frequently affect the cardiovascular system.. They include aortic regurgitation, aortic dissection, mitral valve prolapse, and mitral regurgitation. All of these disorders can affect the function of the heart and lead to heart failure, chest pain or irregular or rapid heart rate. Dissection of the aorta can lead to death. The symptoms which occur in the eye include dislocation of lens, usually upwards and rarely, retinal detachment. Myopia, glaucoma and cataracts can occur. Some people afflicted with this disorder will demonstrate bleeding and easy bruising.
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Medical Content Last Updated on 07/12/2008
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