Marfan syndrome is a disorder that affects connective tissue. Connective tissues are proteins that support skin, bones, blood vessels, and other organs. One of these proteins is fibrillin. A problem with the fibrillin gene causes Marfan syndrome.
Marfan syndrome can be mild to severe, and the symptoms can vary. People with Marfan syndrome are often very tall, thin, and loose jointed. Most people with Marfan syndrome have heart and blood vessel problems, such as a weakness in the aorta or heart valves that leak. They may also have problems with their bones, eyes, skin, nervous system, and lungs.
There is no single test to diagnose Marfan syndrome. Your doctor may use your medical history, family history, and a physical exam to diagnose it. Marfan syndrome has no cure, but treatments can help delay or prevent complications. Treatments include medicines, surgery, and other therapies.
NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases
- What Are the Signs and Symptoms of Marfan Syndrome? (National Heart, Lung, and Blood Institute)
Treatments and Therapies
- How Is Marfan Syndrome Treated? (National Heart, Lung, and Blood Institute)
- Living with Marfan Syndrome (National Heart, Lung, and Blood Institute)
- Heart and Blood Vessels in Marfan Syndrome (Marfan Foundation) - PDF
- Genetics Home Reference: Marfan syndrome (National Library of Medicine)
- ClinicalTrials.gov: Marfan Syndrome (National Institutes of Health)
Journal Articles References and abstracts from MEDLINE/PubMed (National Library of Medicine)
- Article: Long-term follow-up after scleral lens fixation in patients with Marfan...
- Article: Premature aortic smooth muscle cell differentiation contributes to matrix dysregulation...
- Article: Childhood glaucoma in neonatal Marfan syndrome resulting from a novel...
- Marfan Syndrome -- see more articles
Find an Expert
- Marfan Syndrome (For Teens) (Nemours Foundation)