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Diseases

Genetic and Rare Diseases Information Center (GARD)

Noonan syndrome


Other Names for this Disease
  • Male Turner Syndrome
  • Noonan-Ehmke syndrome
  • Ullrich-Noonan syndrome
  • Female Pseudo-Turner Syndrome
  • Pseudo-Ullrich-Turner syndrome
Related Diseases
  • Noonan syndrome 1
  • Noonan syndrome 2
  • Noonan syndrome 3
  • Noonan syndrome 4
  • Noonan syndrome 5
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Noonan syndrome is a genetic disorder that causes abnormal development of multiple parts of the body. 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.[1][2] Noonan syndrome may be caused by a mutation in any of several genes, and can be classified into subtypes based on the responsible gene. It 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. Treatment depends on the symptoms present in each person.[3]

Noonan syndrome belongs to a group of related conditions called the RASopathies. These conditions have some overlapping features and are all caused by genetic changes that disrupt the body's RAS pathway, affecting growth and development. Other conditions in this group include:[4]
Last updated: 6/28/2016

References

  1. Noonan syndrome. Genetics Home Reference. May, 2016; https://ghr.nlm.nih.gov/condition/noonan-syndrome.
  2. Learning About Noonan Syndrome. National Human Genome Research Institute. 2013; http://www.genome.gov/25521674.
  3. Judith E Allanson and Amy E Roberts. Noonan Syndrome. GeneReviews. February 25, 2016; http://www.ncbi.nlm.nih.gov/books/NBK1124/.
  4. Rauen KA. The RASopathies. Annu Rev Genomics Hum Genet. 2013; 14:355-369. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4115674/.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Noonan syndrome. 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 Merck Manual provides information on this condition for patients and caregivers. 
  • The National Human Genome Research Institute's (NHGRI) website has an information page on this topic. NHGRI is part of the National Institutes of Health and supports research on the structure and function of the human genome and its role in health and disease.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) lists the subtypes and associated genes for Noonan syndrome in a table called Phenotypic Series. Each entry in OMIM includes 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.
  • 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. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Male Turner Syndrome
  • Noonan-Ehmke syndrome
  • Ullrich-Noonan syndrome
  • Female Pseudo-Turner Syndrome
  • Pseudo-Ullrich-Turner syndrome
Related Diseases
  • Noonan syndrome 1
  • Noonan syndrome 2
  • Noonan syndrome 3
  • Noonan syndrome 4
  • Noonan syndrome 5
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.