Noonan syndrome is a disease passed down through families (inherited) that causes abnormal development in many parts of the body. It used to be called Turner-like syndrome.
Noonan syndrome is linked to defects in several genes. Problems with the genes cause certain proteins involved in growth and development to become overactive.
Noonan syndrome is an autosomal dominant condition. This means only one parent has to pass down the faulty gene for the baby 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 stature in some persons with Noonan syndrome.
The Noonan Syndrome Support Group, Inc. --
This condition may be detected on early infant exams. Evaluation by an experienced 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.
Rapaport R. Hypofunction of the Ovaries. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 18th Ed. Philadelphia, Pa: Saunders Elsevier; 2007: chap 587.
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