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.

http://www.kidswithheart.org

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.

http://rasopathiesnet.org

Last Updated: 6 Feb 2014

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How do you compare to others with this condition?

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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 112 free, full-text research articles on human participants. First 3 results:

Diagnosis of Noonan syndrome and related disorders using target next generation sequencing.
 

Author(s): Francesca Romana Lepri, Rossana Scavelli, Maria Cristina Digilio, Maria Gnazzo, Simona Grotta, Maria Lisa Dentici, Elisa Pisaneschi, Pietro Sirleto, Rossella Capolino, Anwar Baban, Serena Russo, Tiziana Franchin, Adriano Angioni, Bruno Dallapiccola

Journal:

 

Noonan syndrome is an autosomal dominant developmental disorder with a high phenotypic variability, which shares clinical features with other rare conditions, including LEOPARD syndrome, cardiofaciocutaneous syndrome, Noonan-like syndrome with loose anagen hair, and Costello syndrome. ...

Last Updated: 6 Feb 2014

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A lethal course of hypertrophic cardiomyopathy in Noonan syndrome due to a novel germline mutation in the KRAS gene: case study.
 

Author(s): Gregor Nosan, Sara Bertok, Samo Vesel, Helger G Yntema, Darja Paro-Panjan

Journal: Croat. Med. J.. 2013 Dec;54(6):574-8.

 

Noonan syndrome is a relatively common and heterogeneous genetic disorder, including congenital heart defect in more than half of the cases. If the defect is not large, life expectancy is normal. Here we report on a case of an infant with Noonan syndrome and rapidly progressive hypertrophic ...

Last Updated: 2 Jan 2014

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Do you know this syndrome? Noonan syndrome.
 

Author(s): Rogerio Nabor Kondo, Ligia Márcia Mario Martins, Vivian Cristina Holanda Lopes, Rodrigo Antonio Bittar, Fernanda Mendes Araújo

Journal: An Bras Dermatol. ;88(4):664-6.

 

Noonan Syndrome is one of the most common genetic syndromes and also an important differential diagnosis in children presenting with syndromic facies similar to Turner's syndrome phenotype. This syndrome is characterized by facial dysmorphism, congenital heart defects, short stature ...

Last Updated: 26 Sep 2013

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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: 31 Oct 2013

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Last Updated: 4 Apr 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: 14 Mar 2014

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