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Marfan´s Syndrome

Marfan’s syndrome is an autosomal dominant disorder of connective tissue due to the abnormal expression of fibrillin 1 and characterized by manifestations in the cardiovascular, musculoskeletal and ophtalmic systems. Cutaneous manifestations are minor findings and include striae atrophicae, skin hyperextensibility and joint laxity. Papyraceous scars can occurs but are not a typical feature. Dolichostenomelia is the characteristic skeletal abnormality with tall stature, "pigeon breast", dolichocephaly and arachnodactyly of fingers and toes. In 50-80% of affected individuals ocular manifestations are present with subluxation of the lens. Multivalvular incompetence and dilatation of the ascending aorta represent the main risk and are responsible for the short life span of the patients.

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