Diagnosis

Marfan syndrome is hard to diagnose because there is no lab test for the condition, and symptoms vary a great deal. Most affected children do not have all of the possible signs and complications of the syndrome. A complete physical exam that focuses on the systems affected by the disorder may include a complete family history, an echocar-diogram of the heart, a slit-lamp eye examination by an ophthalmologist, and a skeletal examination by an orthopedist.

Lab tests may eventually be possible, since scientists have discovered the chromosome, gene, and component of connective tissue (fibrillin) in which the mutation for the Marfan syndrome is located. It is hoped that as scientists better understand fibrillin, earlier and more accurate diagnosis of Marfan syndrome will be possible.

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