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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
  • A 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.

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/default.asp. Accessed June 1, 2010.
  2. Wright MJ. The Marfan syndrome. http://www.uptodate.com/home/index.html. Accessed June 1, 2010.
  3. Hiratzka LF, et al. 2010 ACCF/AHA/AATS/ACR/ASA/SCA/SCAI/SIR/STS/SVM guidelines for the diagnosis and management of patients with thoracic aortic disease: Executive summary. Journal of the American College of Cardiology. 2010;55:e27. Accessed June 1, 2010.
  4. Keane MG, et al. Medical Management of Marfan Syndrome. Circulation. 2008;117:2802.
  5. Pyeritz RE. Marfan syndrome: 30 years of research equals 30 years of additional life expectancy. Heart. 2009;95:173.
  6. Children and teens. National Marfan Foundation. http://www.marfan.org/marfan/2493/Children-and-Teens. Accessed June 1, 2010.
  7. Glaucoma: What you should know. National Eye Institute. http://www.nei.nih.gov/health/glaucoma/glaucoma_facts.asp. Accessed June 1, 2010.
  8. Facts about retinal detachment. National Eye Institute. http://www.nei.nih.gov/health/retinaldetach/retinaldetach.asp. Accessed June 1, 2010.
  9. Grogan M (expert opinion). Mayo Clinic, Rochester, Minn. June 4, 2010.
DS00540 Aug. 6, 2010

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