Home > Medical Reference > Encyclopedia (English)

Toggle: English / Spanish

 

Ask the Expert

Dr. Miller’s Bio Image

Get answers to your heart disease prevention questions.
Ask Dr. Miller.

Dr. Miller’s Bio | Q&A Archive

Note: This is for informational purposes only. Doctors cannot provide a diagnosis via e-mail.

Video details

Please install flash player [ Flash player icon ] to see this video.

Related Content


 

Marfan syndrome - Symptom

Symptoms:

People with Marfan syndrome are usually tall with long, thin arms and legs and spider-like fingers -- a condition called arachnodactyly. When they stretch out their arms, the length of their arms is much greater than their height.

Other symptoms include:

  • Coloboma of iris
  • Flat feet
  • Funnel chest (pectus excavatum) or pigeon breast (pectus carinatum)
  • Highly arched palate and crowded teeth
  • Hypotonia
  • Learning disability
  • Movement of the lens of the eye from its normal position (dislocation)
  • Nearsightedness
  • Scoliosis
  • Small lower jaw (micrognathia)
  • Thin, narrow face

Signs and tests:

The doctor will perform a physical exam. There may be hypermobile joints and signs of:

  • Aneurysm
  • Collapsed lung
  • Heart valve problems

An eye exam may show:

The following tests may be performed:

An echocardiogram should be done every year to look at the base of the aorta.

  • Reviewed last on: 5/15/2008
  • Chad Haldeman-Englert, MD, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia PA. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

References

Pyeritz RE. Inherited Diseases of Connective Tissue. In: Goldman L, Ausiello D. Goldman: Cecil Medicine. 23rd ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 281.

Robinson LK, Fitzpatrick E. Marfan Syndrome. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF. Kliegman: Nelson Textbook of Pediatrics. 18th ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 700.