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overlap connective tissue disease (MASS syndrome)
Pathology:
- involvement of the mitral valve, aorta, skeleton, & skin
Genetics:
- associated with defects in FBN1
Differential diagnosis:
- closely resembles Marfan syndrome & Barlow syndrome
- no dislocation of the lenses or aneurysmal changes occur in the aorta
- mitral valve prolapse is variable
General
connective tissue disease; soft tissue disease
genetic syndrome (multisystem disorder)
Database Correlations
OMIM 604308
References
OMIM :accession 604308