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Marfan Syndrome

Marfan syndrome is a disorder that affects connective tissue. 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.

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Results 1 - 10 of 65 for Marfan syndrome
  1. Marfan Syndrome (National Library of Medicine)  
    Marfan syndrome is a disorder that affects connective tissue. Connective tissues are proteins that support skin, bones, blood ... fibrillin. A problem with the fibrillin gene causes Marfan syndrome. Marfan syndrome can be mild to severe, and ...
  2. Marfan syndrome is a disorder that affects the connective tissue in many parts of the body. Connective tissue provides strength and flexibility to structures ...
  3. Marfan syndrome is a disorder of connective tissue. This is the tissue that strengthens the body's structures. Disorders ... Marfan syndrome is caused by variants in a gene called fibrillin-1. Fibrillin-1 plays an important role ...
  4. Marfan syndrome is a disorder of connective tissue which causes skeletal defects typically recognized in a tall, lanky person. A person with Marfan syndrome may exhibit long limbs and spider-like fingers, ...
  5. ... increase TGF-β activity cause a disorder called Marfan syndrome (see below), which is characterized by tall stature. ... develop additional features typical of a condition called Marfan syndrome (described below), such as abnormalities of the large ...
  6. ... Library of Medicine) - PDF Also in Spanish M Marfan Syndrome What Is Marfan Syndrome? (National Institute of Arthritis and Musculoskeletal and Skin ...
  7. ... those of people with a genetic condition called Marfan syndrome. For example, they may have long, slender fingers ( ... has signs and symptoms similar to those of Marfan syndrome and another genetic condition called Loeys-Dietz syndrome. ...
  8. ... a common feature of genetic syndromes such as Marfan syndrome and Weill-Marchesani syndrome. The prevalence of isolated ... 146 adults not meeting clinical diagnostic criteria for Marfan syndrome: further delineation of type 1 fibrillinopathies and focus ...
  9. marfan-syndrome Easy-to-Read From the National Institutes of Health (National Institute of Arthritis and Musculoskeletal and Skin Diseases)  
    Marfan Syndrome/Start Here ... Marfan Syndrome
  10. Causes may include: Homocystinuria Marfan syndrome Other rare genetic disorders ... Doyle Al, Doyle JJ, Dietz HC. Marfan syndrome. In: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics . 21st ed. Philadelphia, PA: ...
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