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Marfans syndrome

Marfans syndrome

(Science: syndrome) a hereditary condition of the connective tissue.

symptoms and signs include tall lean body type, irregular or unsteady gait, long extremities (including fingers and toes), abnormal joint flexibility, flat feet, stooped shoulders, dislocation of the optic lens and aneurysms of the aorta. Affects 1 in 50,000 people. Probably a collagen fibril assembly disorder since it can be mimicked in mice by aminonitriles that interfere with crosslinking.

Inheritance: autosomal dominant.


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