Noonan syndrome is a disease that can be passed down through families (inherited). It causes many parts of the body to develop abnormally.
Noonan syndrome is linked to defects in several genes. 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 doctor will suggest treatment to relieve or manage symptoms. Growth hormone has been used successfully to treat short height in some persons with Noonan syndrome.
The Noonan Syndrome Support Group, Inc. -- www.noonansyndrome.org
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.
Ali O, Donohoue PA. Noonan syndrome. In: Kliegman RM, Stanton BF, St. Geme J, Schor N, Behrman RE, eds. Nelson Textbook of Pediatrics. 19th ed. Philadelphia, PA: Saunders Elsevier; 2011:chap 577.
Updated by: Chad Haldeman-Englert, MD, FACMG, Wake Forest 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, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.
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