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Marfan syndrome

  • 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:

    • 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

    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:

    • 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.