G08: Science Genetic Disorders: Marfan Syndrome

Marfan syndrome is a genetic condition that affects the body’s connective tissue. Connective tissue holds all the body’s cells, organs and tissue together. It also plays an important role in helping the body grow and develop properly.

Marfan syndrome involves the body's connective tissue and is characterized by abnormalities in the skeleton, heart, and eyes. It is caused by an abnormal gene that usually is inherited. People with Marfan syndrome are generally taller than average, have little body fat, and have long, thin fingers.

Marfan syndrome is one of the most common inherited disorders of connective tissue. It is an autosomal dominant condition occurring once in every 10,000 to 20,000 individuals. There is a wide variability in clinical symptoms in Marfan syndrome with the most notable occurring in eye, skeleton, connective tissue and cardiovascular systems.

Marfan syndrome is caused by mutations in the FBN1 gene. FBN1 mutations are associated with a broad continuum of physical features ranging from isolated features of Marfan syndrome to a severe and rapidly progressive form in newborns.