Dictionary of Human Evolution and Biology

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Marfan Syndrome

Degenerative disease of connective tissue caused by a defect in fibrillin (FBN1), an elastic tissue protein found in the eyes, aorta, and limb, finger, and rib bones. Affected individuals present as tall and loose-jointed with spindly fingers and long and slender limbs, hands, and feet. A concave chest deformity is also a feature, as are a curved spine, displaced lenses, and cardiovascular problems. Manifests in the third decade of life. It is usually rupture and dissection of the aorta that causes death. MFS is an example of pleiotrophy, in which a single gene affects many target tissues in a body. MFS is an autosomal dominant. Indications of a paternal age effect.

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