Marfan Syndrome

Marfan Syndrome

People with Marfan syndrome tend to have excessively long bones and are commonly thin, with long, "spider-like" fingers. Other problems include skeletal malformations, abnormal position of the lens of the eye, and enlargement at the beginning part of the aorta, the major vessel carrying blood away from the heart. If left untreated, an enlarged aorta can lead to hemorrhage and even death. This disorder results from mutations in the gene that makes fibrillin-1, a protein important to connective tissue.

Links to Marfan Syndrome

Marfan Syndrome