MASS syndrome

MASS syndrome is a genetic disorder that affects the connective tissue—the material that provides structure and strength to the body’s cells. It is caused by mutations in the FBN1 gene and is known for a collection of symptoms that overlap with those seen in conditions such as Marfan syndrome. The syndrome is defined by a set of findings including features seen in the heart, eyes, skin, and skeleton. People with MASS syndrome often experience specific symptoms such as a mitral valve prolapse (a condition in which the heart valve does not close properly), nearsightedness, and aortic enlargement that is borderline and non-progressive. Additionally, skin and skeletal findings are part of the clinical picture. This overview contains details that help in recognizing the condition and understanding its genetic basis.

Common symptoms in people with MASS syndrome include mitral valve prolapse, nearsightedness, and an aortic enlargement that tends to be borderline and non-progressive. They also can have skin and skeletal features that are somewhat similar to those in Marfan syndrome.

MASS syndrome is caused by genetic changes in the FBN1 gene. The FBN1 gene is responsible for producing a key protein in connective tissue. Mutations in this gene affect the structure and function of connective tissue throughout the body, contributing to the diverse symptoms seen in the condition.

Treatment for MASS syndrome is based on managing the symptoms experienced by the individual. This may involve regular monitoring and interventions aimed at the specific symptoms such as heart, eye, or skeletal issues.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.