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
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