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Symptoms

By Mayo Clinic staff

The signs and symptoms of Marfan syndrome vary greatly, even among members of the same family. Some people experience only mild effects, but others develop life-threatening complications. In most cases, the disease tends to worsen with age.

Marfan syndrome features may include:

  • Tall and slender build
  • Disproportionately long arms, legs, fingers and toes
  • A breastbone that protrudes outward or dips inward
  • A high, arched palate and crowded teeth
  • Heart murmurs
  • Extreme nearsightedness
  • An abnormally curved spine
  • Flat feet

When to see a doctor
If you think that you or your child may have Marfan syndrome, talk to your doctor or pediatrician. If your doctor suspects a problem, you'll likely be referred to a specialist for further evaluation.

Causes Definition
References
  1. Questions and answers about Marfan syndrome. National Institute of Arthritis and Musculoskeletal and Skin Diseases. http://www.niams.nih.gov/health_info/marfan_syndrome. Accessed Nov. 27, 2012.
  2. Wright MJ, et al. Genetics, clinical features and diagnosis of Marfan syndrome and related disorders. http://www.uptodate.com/index. Accessed Nov. 27, 2012.
  3. Kliegman RM, et al. Nelson Textbook of Pediatrics. 19th ed. Philadelphia, Pa.: Saunders Elsevier; 2011. http://www.mdconsult.com/das/book/body/208746819-6/0/1608/0.html. Accessed Nov. 27, 2012.
  4. Goldman L, et al. Cecil Medicine. 24th ed. Philadelphia, Pa.: Saunders Elsevier; 2012. http://www.mdconsult.com/das/book/body/191371208-2/0/1492/0.html#. Accessed Nov. 27, 2012.
  5. Wright MJ, et al. Management of Marfan syndrome and related disorders. http://www.uptodate.com/index. Accessed Nov. 27, 2012.
  6. AskMayoExpert. Marfan syndrome. Rochester, Minn.: Mayo Foundation for Medical Education and Research; 2012.
  7. Ferri FF. Ferri's Clinical Advisor 2013: 5 Books in 1. Philadelphia, Pa.: Mosby Elsevier; 2012. http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-0-323-08373-7..00002-9&isbn=978-0-323-08373-7&about=true&uniqId=343863096-23. Accessed Nov. 27, 2012.
  8. Bowen JM (expert opinion). Mayo Clinic, Rochester, Minn. Jan. 7, 2013.
  9. Wright MJ, et al. Pregnancy and Marfan syndrome. http://www.uptodate.com/index. Accessed Nov. 29, 2012.
  10. Fuster V, ed. et al. Hurst's The Heart. 13th ed. New York, N.Y.: The McGraw-Hill Companies; 2011. http://www.accessmedicine.com/resourceTOC.aspx?resourceID=5. Accessed Nov. 29, 2012.
  11. Goldsmith LA, et al., eds. Fitzpatrick's Dermatology in General Medicine. 8th ed. New York, N.Y.: The McGraw-Hill Companies; 2012. http://www.accessmedicine.com/resourceTOC.aspx?resourceID=740. Accessed Nov. 29, 2012.
  12. Living with Marfan syndrome: Children and teens. National Marfan Foundation. http://www.marfan.org/marfan/2493/Children-and-Teens. Accessed Nov. 29, 2012.
DS00540 Feb. 1, 2013

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