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Genetic and Rare Diseases Information Center (GARD)

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Noonan-like/multiple giant cell lesion syndrome


Other Names for this Disease

  • NL/MGCLS
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Overview

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.[1] Multiple giant cell lesions associated with NS may resolve after puberty with variable restoration of the facial structure.[2]
Last updated: 5/4/2010

References

  1. Judith Allanson, MD. Noonan Syndrome. GeneReviews. October 7, 2008; http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=noonan. Accessed 4/6/2010.
  2. Hanna N, Parfait B, Talaat IM, Vidaud M, Elsedfy HH. SOS1: a new player in the Noonan-like/multiple giant cell lesion syndrome. Clin. Genet.. 2009;
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Basic Information

  • Genetics Home Reference (GHR) contains information on Noonan-like/multiple giant cell lesion syndrome. This website is maintained by the National Library of Medicine.

In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Noonan-like/multiple giant cell lesion syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • NL/MGCLS
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.