Marfan's syndrome
an inherited disease of the CONNECTIVE TISSUE , producing defects in the SKELETON , HEART and EYES . The person is abnormally tall and thin, has spindly, elongated fingers and toes (arachnodactyly), deformities of the spine and CHEST and weak LIGAMENTS . HEART defects include a hole in the septum separating the right and left atrium (atrial septal defect) and narrowing of the AORTA (coarctation of the aorta). The lenses of the eyes are partially dislocated.
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 specific test for 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
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