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Definition of MASS syndrome

MASS syndrome definition - medical term

A heritable disorder of connective tiss ue characterized by involvement of the mitral valve, aorta, skeleton, and skin. Hence, the acronym MASS (Mitral valve, Aorta, Skeleton, Skin).

The MASS syndrome is due to a mutation in FBN1, the fibrillin 1 gene. The same gene as is mutated in Marfan syndrome.

Common Misspellings: mass syndrone

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