Marfan syndrome

Definition of Marfan syndrome

Marfan syndrome is a disorder of connective tissue, the tissue that strengthens the body’s structures.

Causes, incidence, and risk factors

Marfan syndrome is caused by defects in a gene called fibrillin-1. Fibrillin-1 plays an important role as the building block for elastic tissue in the body.

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.

Signs and tests

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

Treatment

Vision problems should be treated when possible.

Expectations (prognosis)

Heart-related complications may shorten the lifespan of people with this disease. However, many patients survive well into their 60s. Good care and surgery may extend the lifespan further.

Review

Chad Haldeman-Englert, MD, Wake Forest University School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc. – 5/10/2010

Pectus excavatum
Marfan

ADAM Medical Encyclopedia

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