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Noonan syndrome 1
Other Names for this Disease
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Noonan syndrome is a genetic disorder that causes abnormal development of multiple parts of the body. Characteristics of the syndrome include a distinctive facial appearance, short stature, a broad or webbed neck, congenital heart defects, bleeding problems, skeletal malformations, and developmental delay. Noonan syndrome may be caused by mutations in any one of several genes including the PTPN11, KRAS, RAF1, SOS1, NRAS and BRAF genes. It is sometimes referred to as a specific subtype based on the specific, mutated gene that causes the syndrome in an affected individual. It is typically inherited in an autosomal dominant manner, although in many individuals with Noonan syndrome, the mutation occurs for the first time and neither of the parents has the condition.
- Haldeman-Englert C. Noonan syndrome. MedlinePlus. http://www.nlm.nih.gov/medlineplus/ency/article/001656.htm. Accessed March 2, 2010.
- Noonan syndrome. Genetics Home Reference (GHR). http://ghr.nlm.nih.gov/condition=noonansyndrome. Accessed March 2, 2010.
- Learning About Noonan Syndrome. National Human Genome Research Institute (NHGRI). http://www.genome.gov/25521674. Accessed March 2, 2010.
- Noonan syndrome. Genetics Home Reference. http://ghr.nlm.nih.gov/condition/noonan-syndrome. Accessed July 16, 2011.
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- 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.
- The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Noonan syndrome 1. Click on the link to go to OMIM and review these resources.