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

View Details
Logo
Noonan Syndrome Foundation

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

Last Updated: 12 Feb 2016

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.

Last Updated: 6 Feb 2014

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

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

View Details
Logo
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

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

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

General Resources

 
 
Top

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

The Growth Characteristics of Patients with Noonan Syndrome: Results of Three Years of Growth Hormone Treatment: A Nationwide Multicenter Study.
 

Author(s): Zeynep Şıklar, Mikayir Genens, Şükran Poyrazoğlu, Firdevs Baş, Feyza Darendeliler, Rüveyde Bundak, Zehra Aycan, Şenay Savaş Erdeve, Semra Çetinkaya, Ayla Güven, Saygın Abalı, Zeynep Atay, Serap Turan, Cengiz Kara, Gülay Can Yılmaz, Nesibe Akyürek, Ayhan Abacı, Gamze Çelmeli, Erkan Sarı, Semih Bolu, Hüseyin Anıl Korkmaz, Enver Şimşek, Gönül Çatlı, Muammer Büyükinan, Atilla Çayır, Olcay Evliyaoğlu, Pınar İşgüven, Tolga Özgen, Nihal Hatipoğlu, Atilla Halil Elhan, Merih Berberoğlu

Journal: J Clin Res Pediatr Endocrinol. 2016 Sep;8(3):305-12.

 

Noonan syndrome (NS) is a multisystem disorder, and short stature is its most striking manifestation. Optimal growth hormone (GH) treatment for NS is still controversial. In this study, using a nationwide registration system, we aimed to evaluate the growth characteristics and the ...

Last Updated: 9 Sep 2016

Go To URL
A Unique Case of a 12-Year-Old Boy With Noonan Syndrome Combined With Noncompaction of the Ventricular Myocardium.
 

Author(s): Xiao-Lin Sun, Jian-Xun Zhao, Xiao-Jing Chen, Zhi Zeng, Yu-Cheng Chen, Qing Zhang

Journal: Int Heart J. 2016 ;57(2):258-61.

 

A 12-year-old Chinese boy was admitted with dyspnea after exercise. Based on his clinical features, echocardiography tests, and family history, he was diagnosed with Noonan syndrome (NS) combined with noncompaction of the ventricular myocardium (NVM). Noonan syndrome (NS) is a common ...

Last Updated: 23 Mar 2016

Go To URL
Growth Hormone Deficiency in a Child with Neurofibromatosis-Noonan Syndrome.
 

Author(s): Doğuş Vurallı, Nazlı Gönç, Dominique Vidaud, Alev Özön, Ayfer Alikaşifoğlu, Nurgün Kandemir

Journal: J Clin Res Pediatr Endocrinol. 2016 Mar;8(1):96-100.

 

Neurofibromatosis-Noonan syndrome (NFNS) is a distinct entity which shows the features of both NF1 (neurofibromatosis 1) and Noonan syndrome (NS). While growth hormone deficiency (GHD) has been relatively frequently identified in NF1 and NS patients, there is limited experience in ...

Last Updated: 20 Apr 2016

Go To URL

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

Go To URL
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

Go To URL
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

Go To URL
 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

Last Updated: 9 Nov 2016

Go to URL
Hormonal Sensitivity in Patients With Noonan and LEOPARD Syndromes
 

Status: Not yet recruiting

Condition Summary: Noonan Syndrome; LEOPARD Syndrome

 

Last Updated: 6 Nov 2015

Go to URL
Familial Investigations of Childhood Cancer Predisposition
 

Status: Recruiting

Condition Summary: Acute Leukemia; Adenomatous Polyposis; Adrenocortical Carcinoma; AML; BAP1 Tumor Predisposition Syndrome; Carney Complex; Choroid Plexus Carcinoma; Constitutional Mismatch Repair Deficiency Syndrome; Diamond-Blackfan Anemia; DICER1 Syndrome; Dyskeratosis Congenita; Emberger Syndrome; Familial Acute Myeloid Leukaemia; Familial Adenomatous Polyposis; Fanconi Anemia; Familial Cancer; Familial Wilms Tumor; Familial Neuroblastoma; GIST; Hereditary Breast and Ovarian Cancer; Hereditary Paraganglioma-Pheochromocytoma Syndrome; Hodgkin Lymphoma; Juvenile Polyposis; Li-Fraumeni Syndrome; Lynch Syndrome; MDS; Melanoma Syndrome; Multiple Endocrine Neoplasia Type 1; Multiple Endocrine Neoplasia Type 2; Neuroblastoma; Neurofibromatosis Type 1; Neurofibromatosis Type II; Nevoid Basal Cell Carcinoma Syndrome; Non Hodgkin Lymphoma; Noonan Syndrome and Other Rasopathy; Overgrowth Syndromes; Pancreatic Cancer; Peutz-Jeghers Syndrome; Pheochromocytoma/Paraganglioma; PTEN Hamartoma Tumor Syndrome; Retinoblastoma; Rhabdoid Tumor Predisposition Syndrome; Rhabdomyosarcoma; Rothmund-Thomson Syndrome; Tuberous Sclerosis; Von Hippel-Lindau Disease

 

Last Updated: 12 Apr 2017

Go to URL