Noonan syndrome

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Pectus excavatum

There is no single treatment for Noonan syndrome. Treatment focuses on the problems that occur. Growth hormone has been used successfully in Noonan syndrome to treat short stature.

The Noonan Syndrome Support Group, Inc. -- www.noonansyndrome.org

The expected outcome depends on the extent and severity of symptoms that are present. Patients can lead normal lives. Mental retardation, if present, is usually mild.

• Low self-esteem
• Social difficulties related to physical abnormalities
• Male infertility in those with both testes undescended
• Abnormal heart structure
• Accumulation of fluid in tissues of body (lymphedema, cystic hygroma)
• Failure to thrive in infants
• Short stature

This condition may be detected on early infant examinations. Evaluation by an experienced geneticist is often needed to diagnose Noonan syndrome. If there are any signs of Noonan or Turner syndrome ask your health care provider for the name of a geneticist to see. Genetic counseling is recommended if you have a family history of Noonan syndrome.

Review Date: 04/20/2005
Reviewed By: Neal Sondheimer, M.D., PhD., Division of Genetics and Metabolism, Children's Hospital of Philadelphia, Philadelphia, PA. Review provided by VeriMed Healthcare Network.