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: 4 May 2015

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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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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: 4 May 2015

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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.

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 127 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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PZR coordinates Shp2 Noonan and LEOPARD syndrome signaling in zebrafish and mice.
 

Author(s): Jeroen Paardekooper Overman, Jae-Sung Yi, Monica Bonetti, Matthew Soulsby, Christian Preisinger, Matthew P Stokes, Li Hui, Jeffrey C Silva, John Overvoorde, Piero Giansanti, Albert J R Heck, Maria I Kontaridis, Jeroen den Hertog, Anton M Bennett

Journal: Mol. Cell. Biol.. 2014 Aug;34(15):2874-89.

 

Noonan syndrome (NS) is an autosomal dominant disorder caused by activating mutations in the PTPN11 gene encoding Shp2, which manifests in congenital heart disease, short stature, and facial dysmorphia. The complexity of Shp2 signaling is exemplified by the observation that LEOPARD ...

Last Updated: 4 Jul 2014

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Twin infant with lymphatic dysplasia diagnosed with Noonan syndrome by molecular genetic testing.
 

Author(s): Deepan Mathur, Santhosh Somashekar, Cristina Navarrete, Maria M Rodriguez

Journal: Fetal Pediatr Pathol. 2014 Aug;33(4):253-7.

 

Noonan Syndrome is an autosomal dominant disorder characterized by short stature, congenital heart defects, developmental delay, dysmorphic facial features and occasional lymphatic dysplasias. The features of Noonan Syndrome change with age and have variable expression. The diagnosis ...

Last Updated: 24 Jun 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 11 free, full-text review articles on human participants. First 3 results:

Noonan syndrome.
 

Author(s): Amy E Roberts, Judith E Allanson, Marco Tartaglia, Bruce D Gelb

Journal: Lancet. 2013 Jan;381(9863):333-42.

 

Noonan syndrome is a genetic multisystem disorder characterised by distinctive facial features, developmental delay, learning difficulties, short stature, congenital heart disease, renal anomalies, lymphatic malformations, and bleeding difficulties. Mutations that cause Noonan syndrome ...

Last Updated: 28 Jan 2013

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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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Clinical Trial Information This information is provided by ClinicalTrials.gov

Study of Metabolic Modifications in Children With Noonan Syndrome
 

Status: Recruiting

Condition Summary: Child Syndrome

 

Last Updated: 25 Mar 2015

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Last Updated: 20 Oct 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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