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

More general terms

• connective tissue disease; soft tissue disease
• genetic syndrome (multisystem disorder)

Database

• OMIM: https://mirror.omim.org/entry/604308