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MASS syndrome

Orpha number ORPHA99715
Synonym(s) Mitral valve-aorta-skeleton-skin syndrome
Prevalence -
Inheritance -
Age of onset -
ICD-10 -
  • C536030
MedDRA -


MASS syndrome is a Marfan-like connective tissue disorder characterized by Mitral valve prolapse, Aortic dilatation, and Skeletal and Skin anomalies. Prevalence is unknown. The ocular anomalies seen in Marfan syndrome (see this term) are not present in patients with MASS syndrome. Transmission appears to be autosomal dominant. In some cases, the syndrome may be caused by mutations in the fibrillin gene (FBN1, 15q21.1).

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