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

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

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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Rapidly progressive hypertrophic cardiomyopathy in an infant with Noonan syndrome with multiple lentigines: palliative treatment with a rapamycin analog.
 

Author(s): Andreas Hahn, Jessica Lauriol, Josef Thul, Kachina Behnke-Hall, Tushiha Logeswaran, Anne Schänzer, Nuray Böğürcü, Boyan K Garvalov, Martin Zenker, Bruce D Gelb, Susanne von Gerlach, Reinhard Kandolf, Maria I Kontaridis, Dietmar Schranz

Journal: Am. J. Med. Genet. A. 2015 Apr;167A(4):744-51.

 

Noonan syndrome with multiple lentigines (NSML) frequently manifests with hypertrophic cardiomyopathy (HCM). Recently, it was demonstrated that mTOR inhibition reverses HCM in NSML mice. We report for the first time on the effects of treatment with a rapamycin analog in an infant ...

Last Updated: 30 Mar 2015

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Mechanism and treatment for learning and memory deficits in mouse models of Noonan syndrome.
 

Author(s): Yong-Seok Lee, Dan Ehninger, Miou Zhou, Jun-Young Oh, Minkyung Kang, Chuljung Kwak, Hyun-Hee Ryu, Delana Butz, Toshiyuki Araki, Ying Cai, J Balaji, Yoshitake Sano, Christine I Nam, Hyong Kyu Kim, Bong-Kiun Kaang, Corinna Burger, Benjamin G Neel, Alcino J Silva

Journal: Nat. Neurosci.. 2014 Dec;17(12):1736-43.

 

In Noonan syndrome (NS) 30-50% of subjects show cognitive deficits of unknown etiology and with no known treatment. Here, we report that knock-in mice expressing either of two NS-associated mutations in Ptpn11, which encodes the nonreceptor protein tyrosine phosphatase Shp2, show ...

Last Updated: 21 Nov 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 16 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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Clinical Trial Information This information is provided by ClinicalTrials.gov

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: 26 Aug 2015

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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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