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Genetic and Rare Diseases Information Center (GARD)

Noonan syndrome 1

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Noonan syndrome is a genetic disorder that causes abnormal development of multiple parts of the body.[1] Features of Noonan syndrome may include a distinctive facial appearance, short stature, a broad or webbed neck, congenital heart defects, bleeding problems, skeletal malformations, and developmental delay.[2][3] Noonan syndrome may be caused by mutations in any one of several genes including the PTPN11, KRAS, RAF1, SOS1, NRAS and BRAF genes.[4] It is sometimes referred to as a specific subtype based on the responsible gene in an affected person. Noonan syndrome is typically inherited in an autosomal dominant manner but many cases are due to a new mutation and are not inherited from an affected parent.[2][3]
Last updated: 6/2/2015


  1. Haldeman-Englert C. Noonan syndrome. MedlinePlus. 2009; Accessed 3/2/2010.
  2. Noonan syndrome. Genetics Home Reference (GHR). 2007; Accessed 3/2/2010.
  3. Learning About Noonan Syndrome. National Human Genome Research Institute (NHGRI). 2009; Accessed 3/2/2010.
  4. Noonan syndrome. Genetics Home Reference. March, 2011;
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Basic Information

  • Genetics Home Reference (GHR) contains information on Noonan syndrome 1. This website is maintained by the National Library of Medicine.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • The National Human Genome Research Institute's (NHGRI) mission encompasses a broad range of studies aimed at understanding the structure and function of the human genome and its role in health and disease. Click on the link to view the information page on this topic.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Noonan syndrome 1. Click on the link to view a sample search on this topic.
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.