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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Noonan Syndrome Foundation

Our mission is to Support, Educate and Advocate for those with Noonan syndrome.

Last Updated: 12 Feb 2016

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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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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: 4 May 2015

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Noonan Syndrome Foundation

Our mission is to Support, Educate and Advocate for those with Noonan syndrome.

http://www.teamnoonan.org

Last Updated: 12 Feb 2016

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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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General Support Organizations

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General Resources

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

Five-year response to growth hormone in children with Noonan syndrome and growth hormone deficiency.
 

Author(s): Niki Zavras, Cristina Meazza, Alba Pilotta, Chiara Gertosio, Sara Pagani, Carmine Tinelli, Mauro Bozzola

Journal:

 

Noonan syndrome (NS) is an autosomal dominant disorder characterized by specific features including short stature, distinctive facial dysmorphic features, congenital heart defects, hypertrophic cardiomyopathy, skeletal anomalies and webbing of the neck. Molecular screening has shown ...

Last Updated: 8 Oct 2015

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Multiple Intracranial Tuberculomas in a Patient With Noonan Syndrome.
 

Author(s): Hao-Yang Hsieh, Lu-An Chen

Journal: Acta Neurol Taiwan. 2015 Jun;24(2):71-2.

 

Last Updated: 16 Jul 2015

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Repeated General Anesthesia in a Patient With Noonan Syndrome.
 

Author(s): Yoshinao Asahi, Ryosuke Fujii, Naoko Usui, Hajime Kagamiuchi, Shiro Omichi, Junichiro Kotani

Journal: Anesth Prog. 2015 ;62(2):71-3.

 

Noonan syndrome (NS) is an autosomal dominant disorder characterized by facial anomalies, short stature, chest deformity, congenital heart diseases, and other comorbidities. The challenges faced during anesthetic management of patients with NS could be due to congenital heart diseases, ...

Last Updated: 11 Jun 2015

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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 17 free, full-text review articles on human participants. First 3 results:

Mutation in NRAS in familial Noonan syndrome--case report and review of the literature.
 

Author(s): Sara Ekvall, Maria Wilbe, Jovanna Dahlgren, Eric Legius, Arie van Haeringen, Otto Westphal, Göran Annerén, Marie-Louise Bondeson

Journal:

 

Noonan syndrome (NS), a heterogeneous developmental disorder associated with variable clinical expression including short stature, congenital heart defect, unusual pectus deformity and typical facial features, is caused by activating mutations in genes involved in the RAS-MAPK signaling pathway.

Last Updated: 15 Oct 2015

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The impact of growth hormone therapy on adult height in noonan syndrome: a systematic review.
 

Author(s): Claudio Giacomozzi, Annalisa Deodati, Mohamad Guftar Shaikh, Syed Faisal Ahmed, Stefano Cianfarani

Journal: Horm Res Paediatr. 2015 ;83(3):167-76.

 

Recombinant human growth hormone (rhGH) is being used to promote linear growth in short children with Noonan syndrome. However, its efficacy is still controversial.

Last Updated: 21 Apr 2015

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Oral manifestations of Noonan syndrome: review of the literature and a report of four cases.
 

Author(s): Sreekanth Kumar Mallineni, Cynthia Kar Yung Yiu, Nigel Martyn King

Journal: Rom J Morphol Embryol. 2014 ;55(4):1503-9.

 

Noonan syndrome (NS) was described by Noonan and Ehmke as a multi-system disorder, which is typically evident at birth. The incidence of this syndrome is estimated to be one per 2500 to one per 1000 and affects both genders. While the clinical manifestations of NS have been well documented, ...

Last Updated: 23 Jan 2015

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Last Updated: 30 Apr 2016

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Hormonal Sensitivity in Patients With Noonan and LEOPARD Syndromes
 

Status: Not yet recruiting

Condition Summary: Noonan Syndrome; LEOPARD Syndrome

 

Last Updated: 6 Nov 2015

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Study of Metabolic Modifications in Children With Noonan Syndrome
 

Status: Recruiting

Condition Summary: Child Syndrome

 

Last Updated: 9 Mar 2016

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