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Genetic and Rare Diseases Information Center (GARD)

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Noonan syndrome 2

Other Names for this Disease
  • Autosomal recessive Noonan syndrome
  • Noonan syndrome autosomal recessive
  • NS2
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How might Noonan syndrome be treated?

Unfortunately, there is no cure for Noonan syndrome. Treatment generally focuses on the specific signs and/or symptoms that an affected individual has. Treatment of the complications associated with Noonan syndrome is generally standard, and does not differ from treatment in the general population for each individual complication.[1] Management may require the coordinated efforts of a team of specialists.[2]

In individuals with congenital heart defects, treatment with certain medications, surgical intervention, and/or other techniques may be necessary. Any surgical procedures depend upon the location, severity, and/or combination of abnormalities and their symptoms. heart problems, arteriovenous abnormalities and/or lymphatic malformations that may be present are taken into consideration during decisions concerning surgical procedures.[2]

For those who also have thrombocytopenia, platelet dysfunction, and/or coagulation factor deficiencies, physicians, dentists, and/or other health care workers may recommend certain preventive measures before or during surgery to control possible abnormal bleeding. In addition, respiratory infections should be treated promptly and aggressively. Because of the potentially increased risk of bacterial infection of the lining of the heart (endocarditis) and the heart valves, affected individuals with certain heart defects, such as atrial septal defects, may be given medication prior to any surgical procedures (including dental procedures).[2]

In affected males with cryptorchidism, surgery should be performed to move undescended testes into the scrotum and attach them in a fixed position. This surgery is typically performed before 5 years of age to help prevent the risk of infertility.[2]

Early intervention may be important in helping children with Noonan syndrome reach their potential. Special services that may be beneficial to affected children may include special remedial education, speech therapy, physical therapy, and other medical, social, and/or vocational services. The short stature in patients with Noonan syndrome can be treated with growth hormone which has been shown to improve final adult height.[2]
Last updated: 10/1/2013

  1. Judith E Allanson. Noonan Syndrome. GeneReviews. October 7, 2008; Accessed 7/16/2011.
  2. Noonan Syndrome. NORD. February 18, 2009; Accessed 7/17/2011.

Management Guidelines

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions. Click on the link to view the article on this topic.

Clinical Trials & Research for this Disease

  • The Centers for Mendelian Genomics program is working to discover the causes of rare genetic disorders. For more information about applying to the research study, please visit their website.