Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia

Common Name(s)

Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia

Noonan syndrome-like disorder is a developmental disorder resembling Noonan syndrome (NS1; {163950}) and characterized by facial dysmorphism, a wide spectrum of cardiac disease, reduced growth, variable cognitive deficits, and ectodermal and musculoskeletal anomalies. There is extensive phenotypic heterogeneity and variable expressivity (summary by {3:Martinelli et al., 2010}). Patients with heterozygous germline CBL mutations have an increased risk for certain malignancies, particularly juvenile myelomonocytic leukemia (JMML; {607785}), as also seen in patients with Noonan syndrome (summary by {4:Niemeyer et al., 2010}).
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia" for support, advocacy or research.

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-like disorder with or without juvenile myelomonocytic leukemia" for support, advocacy or research.

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

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-like disorder with or without juvenile myelomonocytic leukemia" returned 0 free, full-text research articles on human participants.

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-like disorder with or without juvenile myelomonocytic leukemia" returned 0 free, full-text review articles on human participants.

 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.