MASS phenotype

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MASS phenotype

Genetics An acronym–Mitral valve, Aorta, Skin, Skeletal–for a heterogeneous complex seen in Pts/families with mitral valve prolapse with thoracic cage deformity and spontaneous pneumothorax, with defects in the skin–in the extracellular matrix, striae atrophicae and skeleton–joint hypermobility, long limbs; involvement of the aorta is integral to the phenotype, progressive dilatation and dissection of the aorta does not cause significantly ↑ morbidity. See Marfan syndrome, Mitral valve prolapse.

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