Journal of Genetic Disorders

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.