MASS syndrome

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 individuals symptoms.

Also known as: MASS phenotype, MASS syndrome, Mitral valve prolapse, Aortic enlargement, Skin and Skeletal findings, OCTD, overlap connective tissue disease

35 clinical trials for this condition and its sub-types, 0 tagged with MASS syndrome itself.