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Genetic and Rare Diseases Information Center (GARD)

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MASS syndrome

Other Names for this Disease
  • MASS phenotype
  • OCTD
  • Overlap connective tissue disease
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MASS (mitral valve prolapse, aortic enlargement, skin and skeletal findings) syndrome is a genetic disorder of connective tissue caused by mutations in the FBN1 gene. Connective tissue is the material between the cells of the body that gives tissues form and strength. Symptoms include mitral valve prolapse, nearsightedness, borderline and non-progressive aortic enlargement, and skin and skeletal findings that overlap with those seen in Marfan syndrome. Treatment is based on the individual’s symptoms.[1]
Last updated: 11/30/2011


  1. Dietz HC. Marfan syndrome. GeneReviews. June 2009; Accessed 11/30/2011.
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In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • PubMed is a searchable database of medical literature and lists journal articles that discuss MASS syndrome. Click on the link to view a sample search on this topic.