Noonan syndrome is a disease present from birth (congenital) that causes many parts of the body to develop abnormally. In some cases it is passed down through families (inherited).
Noonan syndrome is linked to defects in several genes. In general, certain proteins involved in growth and development become overactive as a result of these gene changes.
Noonan syndrome is an autosomal dominant condition. This means only one parent has to pass down the nonworking gene for the child to have the syndrome. However, some cases may not be inherited.
Tests depend on the symptoms, but may include:
Genetic testing can help diagnose this syndrome.
There is no specific treatment. Your provider will suggest treatment to relieve or manage symptoms. Growth hormone has been used successfully to treat short height in some people with Noonan syndrome.
More information and support for people with Noonan syndrome and their families can be found at -- www.teamnoonan.org.
Complications may include:
This condition may be found during early infant exams. A geneticist is often needed to diagnose Noonan syndrome.
Couples with a family history of Noonan syndrome may want to consider genetic counseling before having children.
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Madan-Khetarpal S, Arnold G, Ortiz D. Genetic disorders and dysmorphic conditions. In: Zitelli BJ, McIntire SC, Nowalk AJ, Garrison J, eds. Zitelli and Davis' Atlas of Pediatric Physical Diagnosis. 8th ed. Philadelphia, PA: Elsevier; 2023:chap 1.
Mitchell AL. Congenital anomalies. In: Martin RJ, Fanaroff AA, Walsh MC, eds. Fanaroff and Martin's Neonatal-Perinatal Medicine. 11th ed. Philadelphia, PA: Elsevier; 2020:chap 30.
Reviewed By: Anna C. Edens Hurst, MD, MS, Associate Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.