Noonan Syndrome

Common Name(s)

Noonan Syndrome

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.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Noonan Syndrome" for support, advocacy or research.

Kids with Heart National Association for Children's Heart Disorders

Our organization was formed in 1985 with the main mission of providing support, information, resources, and education for the families of the children living with congenital heart defects and to promote public awareness of the issues that these families live with on a day to day basis.

Last Updated: 30 Oct 2012

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RASopathies Network USA

To foster research and development in medicine, science and technology, to promote the health of and assist individuals and families affected by diseases and/or genetic syndromes of the Ras/MAP kinase pathway.

Last Updated: 6 Feb 2014

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Noonan Syndrome" for support, advocacy or research.

Kids with Heart National Association for Children's Heart Disorders

Our organization was formed in 1985 with the main mission of providing support, information, resources, and education for the families of the children living with congenital heart defects and to promote public awareness of the issues that these families live with on a day to day basis.

http://www.kidswithheart.org

Last Updated: 30 Oct 2012

View Details
RASopathies Network USA

To foster research and development in medicine, science and technology, to promote the health of and assist individuals and families affected by diseases and/or genetic syndromes of the Ras/MAP kinase pathway.

http://rasopathiesnet.org

Last Updated: 6 Feb 2014

View Details

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Noonan Syndrome" returned 120 free, full-text research articles on human participants. First 3 results:

Next-generation sequencing identifies rare variants associated with Noonan syndrome.
 

Author(s): Peng-Chieh Chen, Jiani Yin, Hui-Wen Yu, Tao Yuan, Minerva Fernandez, Christina K Yung, Quang M Trinh, Vanya D Peltekova, Jeffrey G Reid, Erica Tworog-Dube, Margaret B Morgan, Donna M Muzny, Lincoln Stein, John D McPherson, Amy E Roberts, Richard A Gibbs, Benjamin G Neel, Raju Kucherlapati

Journal: Proc. Natl. Acad. Sci. U.S.A.. 2014 Aug;111(31):11473-8.

 

Noonan syndrome (NS) is a relatively common genetic disorder, characterized by typical facies, short stature, developmental delay, and cardiac abnormalities. Known causative genes account for 70-80% of clinically diagnosed NS patients, but the genetic basis for the remaining 20-30% ...

Last Updated: 6 Aug 2014

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Noonan and LEOPARD syndrome Shp2 variants induce heart displacement defects in zebrafish.
 

Author(s): Monica Bonetti, Jeroen Paardekooper Overman, Federico Tessadori, Emily Noël, Jeroen Bakkers, Jeroen den Hertog

Journal: Development. 2014 May;141(9):1961-70.

 

Germline mutations in PTPN11, encoding Shp2, cause Noonan syndrome (NS) and LEOPARD syndrome (LS), two developmental disorders that are characterized by multiple overlapping symptoms. Interestingly, Shp2 catalytic activity is enhanced by NS mutations and reduced by LS mutations. Defective ...

Last Updated: 23 Apr 2014

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Structural insights into Noonan/LEOPARD syndrome-related mutants of protein-tyrosine phosphatase SHP2 (PTPN11).
 

Author(s): Wei Qiu, Xiaonan Wang, Vladimir Romanov, Ashley Hutchinson, Andrés Lin, Maxim Ruzanov, Kevin P Battaile, Emil F Pai, Benjamin G Neel, Nickolay Y Chirgadze

Journal:

 

The ubiquitous non-receptor protein tyrosine phosphatase SHP2 (encoded by PTPN11) plays a key role in RAS/ERK signaling downstream of most, if not all growth factors, cytokines and integrins, although its major substrates remain controversial. Mutations in PTPN11 lead to several distinct ...

Last Updated: 20 Mar 2014

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Noonan Syndrome" returned 10 free, full-text review articles on human participants. First 3 results:

Noonan syndrome and clinically related disorders.
 

Author(s): Marco Tartaglia, Bruce D Gelb, Martin Zenker

Journal: Best Pract. Res. Clin. Endocrinol. Metab.. 2011 Feb;25(1):161-79.

 

Noonan syndrome is a relatively common, clinically variable developmental disorder. Cardinal features include postnatally reduced growth, distinctive facial dysmorphism, congenital heart defects and hypertrophic cardiomyopathy, variable cognitive deficit and skeletal, ectodermal and ...

Last Updated: 14 Mar 2011

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Noonan syndrome: clinical features, diagnosis, and management guidelines.
 

Author(s): Alicia A Romano, Judith E Allanson, Jovanna Dahlgren, Bruce D Gelb, Bryan Hall, Mary Ella Pierpont, Amy E Roberts, Wanda Robinson, Clifford M Takemoto, Jacqueline A Noonan

Journal: Pediatrics. 2010 Oct;126(4):746-59.

 

Noonan syndrome (NS) is a common, clinically and genetically heterogeneous condition characterized by distinctive facial features, short stature, chest deformity, congenital heart disease, and other comorbidities. Gene mutations identified in individuals with the NS phenotype are ...

Last Updated: 5 Oct 2010

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Giant cell lesions in noonan syndrome: case report and review of the literature.
 

Author(s): Andreia Bufalino, Manoela Carrera, Roman Carlos, Ricardo D Coletta

Journal: Head Neck Pathol. 2010 Jun;4(2):174-7.

 

Noonan-like/multiple giant cell lesion syndrome (NS/MGCLS) is a rare condition with phenotypic overlap with Noonan syndrome (NS). Once thought to be a specific and separate entity, it is now suggested to be a variant of the NS spectrum. We report a patient with classical cardinal ...

Last Updated: 31 May 2010

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Last Updated: 20 Oct 2014

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Natural History of Diseases Associated With Allergic Inflammation: Atopic Dermatitis and Genetic and Congenital Diseases Associated With Atopic Pathways
 

Status: Recruiting

Condition Summary: Atopic Dermatitis; Netheron's Syndrome; Piebaldism; Hyper IgE Syndrome; Ichthyosis; Anaphylaxis; Severe Allergy

 

Last Updated: 21 Jun 2014

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Laboratory Diagnosis and Prognosis of Severe Dengue
 

Status: Recruiting

Condition Summary: Dengue Fever

 

Last Updated: 25 Jun 2014

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