Marfan Syndrome: A Disorder of Connective Tissue

Marfan syndrome is a disorder of connective tissue: the proteins that support the skin, bones, blood vessels and other organs. One of those proteins is fibrillin, and a problem in the fibrillin gene causes the syndrome.

Signs

It can be mild or severe, and its symptoms vary.

• People with Marfan syndrome are often very tall and thin, with loose joints.
• Most have heart and blood vessel problems, such as a weak aorta or leaky heart valves.
• It can also cause problems with the bones, eyes, skin, nervous system and lungs.

Diagnosis and treatment

There is no specific test for it. A doctor may diagnose it from your medical history, your family history and a physical exam. There is no cure, but medicines, surgery and other therapies can help delay or prevent complications.

Sources

• MedlinePlus, U.S. National Library of Medicine, "Marfan Syndrome," from the NIH National Institute of Arthritis and Musculoskeletal and Skin Diseases. https://medlineplus.gov/marfansyndrome.html
• Rewritten in hubnx's own words.