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 - Resource for teachers available from the National Marfan Foundation called Marfan Syndrome Need-to-Know Information for Teachers. Other free resource are available at The Marfan Foundation.