Syndrome, MASS: A heritable disorder of connective tissue characterized by involvement of the mitral valve, aorta, skeleton, and skin. Hence, the acronym MASS (Mitral valve, Aorta, Skeleton, Skin).
The MASS syndrome is due to a mutation in the fibrillin 1 gene FBN1, the same gene as is mutated in Marfan syndrome.
MASS syndrome information including symptoms, diagnosis, misdiagnosis, treatment, causes, patient stories, videos, forums, prevention, and prognosis.
A US Department of Health and Human Service project providing information on genetic and rare diseases. A comprehensive body of resources on MASS syndrome
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MASS Phenotype is a connective tissue disorder that is similar to Marfan syndrome that involves the M itral valve, A orta, S kin, S keletal features similar to Marfan ...
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