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:

• A chest that sinks in or sticks out -- funnel chest (pectus excavatum) or pigeon breast (pectus carinatum)
• Flat feet
• Highly arched palate and crowded teeth
• Hypotonia
• Joints that are too flexible
• Learning disability
• Movement of the lens of the eye from its normal position (dislocation)
• Nearsightedness
• Small lower jaw (micrognathia)
• Spine that curves to one side (scoliosis)
• Thin, narrow face

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:

• Defects of the lens or cornea
• Retinal detachment
• Vision problems

The following tests may be performed:

• Echocardiogram
• Fibrillin-1 mutation testing (in some people)

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

Images

Marfan's syndrome

Pectus excavatum

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Marfan syndrome Overview

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Marfan syndrome Treatment

Review Date: 05/10/2010
Reviewed By: 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.

A.D.A.M., Inc. is accredited by URAC, also known as the American Accreditation HealthCare Commission (www.urac.org)