Introduction to Marfan Syndrome

Marfan syndrome is a genetic disorder that affects the connective tissue in the body. It is a relatively rare condition, affecting approximately 1 in 5,000 individuals. The syndrome is named after Antoine Marfan, the French pediatrician who first described it in 1896. Marfan syndrome can affect various parts of the body, including the heart, blood vessels, bones, joints, eyes, and lungs.

Causes and Genetic Factors

Marfan syndrome is caused by a mutation in the FBN1 gene, which provides instructions for making a protein called fibrillin-1.