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.
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:
Vision problems should be treated when possible.
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.
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