Noonan-like/multiple giant cell lesion syndrome

Common Name(s)

Noonan-like/multiple giant cell lesion syndrome

Noonan-like/multiple giant cell lesion syndrome (NS/MGCLS) is a term used to describe a subgroup of people with Noonan syndrome who also have giant cell lesions (benign tumor-like lesions that most frequently occur in the jaws but may also affect other bones or soft tissues) and resemble individuals who have cherubism. Although NS/MGCLS was once believed to be a separate condition, it is now known to be part of the Noonan syndrome spectrum. Mutations in the PTPN11 and SOS1 genes have been associated with NS/MGCLS; however, mutations in these genes do not always cause giant cell lesions. One family with NS/MGCLS has been found to have a mutation in the PTPN11 gene but no giant cell lesions, suggesting that other genetic factors may be involved in leading to giant cell development. Multiple giant cell lesions associated with NS may resolve after puberty with variable restoration of the facial structure.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Noonan-like/multiple giant cell lesion syndrome" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

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The terms "Noonan-like/multiple giant cell lesion syndrome" returned 2 free, full-text research articles on human participants. First 3 results:

Phenotypic and genotypic characterisation of Noonan-like/multiple giant cell lesion syndrome.
 

Author(s): J S Lee, M Tartaglia, B D Gelb, K Fridrich, S Sachs, C A Stratakis, M Muenke, P G Robey, M T Collins, A Slavotinek

Journal: J. Med. Genet.. 2005 Feb;42(2):e11.

 

Last Updated: 3 Feb 2005

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A novel PTPN11 gene mutation bridges Noonan syndrome, multiple lentigines/LEOPARD syndrome and Noonan-like/multiple giant cell lesion syndrome.
 

Author(s): Anna Sarkozy, Maria Gabriela Obregon, Emanuela Conti, Giorgia Esposito, Rita Mingarelli, Antonio Pizzuti, Bruno Dallapiccola

Journal: Eur. J. Hum. Genet.. 2004 Dec;12(12):1069-72.

 

Noonan (NS) and multiple lentigines/LEOPARD syndromes (LS) have proved to be associated with distinct PTPN11 mutations. Noonan-like/multiple giant cell lesion syndrome (NLS) is a rare disease, characterised by short stature, facial dysmorphisms, congenital heart defect (CHD) and central ...

Last Updated: 19 Nov 2004

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Reviews from the PubMed Database

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The terms "Noonan-like/multiple giant cell lesion syndrome" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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