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MASS phenotypeAn acronym for a heterogeneous symptom complex:
• Mitral valve prolapse with thoracic cage deformity and spontaneous pneumothorax, with defects in the
• Aortic dissection (which does not cause significant morbidity),
• Skin (extracellular matrix, striae atrophicae) and
• Skeleton (joint hypermobility, long limbs). Involvement of the aorta is integral to the phenotype (progressive dilatation).
MASS phenotypeGenetics 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.
A Marfanoid body type with the following features: Mitral valve prolapse, Aortic dilation, Striae of the skin, and Skeletal involvement.
See also: phenotype