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Other Names for this Disease
- MASS phenotype
- Overlap connective tissue disease
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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.MASS (mitral valve prolapse, aortic enlargement, skin and skeletal findings) syndrome is a genetic disorder of
Last updated: 11/30/2011
- Dietz HC. Marfan syndrome. GeneReviews. June 2009; http://www.ncbi.nlm.nih.gov/books/NBK1335/. Accessed 11/30/2011.
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In Depth Information
- The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss MASS syndrome. Click on the link to go to OMIM and review these resources.
- 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.