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Genetics Home Reference: your guide to understanding genetic conditions
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Cherubism

Reviewed April 2007

What is cherubism?

Cherubism is a disorder characterized by abnormal bone tissue in the lower part of the face. Beginning in early childhood, both the lower jaw (the mandible) and the upper jaw (the maxilla) become enlarged as bone is replaced with painless, cyst-like growths. These growths give the cheeks a swollen, rounded appearance and often interfere with normal tooth development. In some people the condition is so mild that it may not be noticeable, while other cases are severe enough to cause problems with vision, breathing, speech, and swallowing. Enlargement of the jaw usually continues throughout childhood and stabilizes during puberty. The abnormal growths are gradually replaced with normal bone in early adulthood. As a result, many affected adults have a normal facial appearance.

Most people with cherubism have few, if any, signs and symptoms affecting other parts of the body. Rarely, however, this condition occurs as part of another genetic disorder. For example, cherubism can occur with Ramon syndrome, which also involves short stature, intellectual disability, and overgrowth of the gums (gingival fibrosis). Additionally, cherubism has been reported in rare cases of Noonan syndrome (a developmental disorder characterized by unusual facial characteristics, short stature, and heart defects) and fragile X syndrome (a condition primarily affecting males that causes learning disabilities and cognitive impairment).

How common is cherubism?

The incidence of cherubism is unknown. At least 250 cases have been reported worldwide.

What genes are related to cherubism?

Mutations in the SH3BP2 gene have been identified in about 80 percent of people with cherubism. In most of the remaining cases, the genetic cause of the condition is unknown.

The SH3BP2 gene provides instructions for making a protein whose exact function is unclear. The protein plays a role in transmitting chemical signals within cells, particularly cells involved in the replacement of old bone tissue with new bone (bone remodeling) and certain immune system cells.

Mutations in the SH3BP2 gene lead to the production of an overly active version of this protein. The effects of SH3BP2 mutations are still under study, but researchers believe that the abnormal protein disrupts critical signaling pathways in cells associated with the maintenance of bone tissue and in some immune system cells. The overactive protein likely causes inflammation in the jaw bones and triggers the production of osteoclasts, which are cells that break down bone tissue during bone remodeling. An excess of these bone-eating cells contributes to the destruction of bone in the upper and lower jaws. A combination of bone loss and inflammation likely underlies the cyst-like growths characteristic of cherubism.

Related Gene(s)

Changes in this gene are associated with cherubism.

  • SH3BP2

How do people inherit cherubism?

This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.

In some cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.

Where can I find information about diagnosis or management of cherubism?

These resources address the diagnosis or management of cherubism and may include treatment providers.

  • Gene Review: Cherubism (http://www.ncbi.nlm.nih.gov/books/NBK1137)
  • Genetic Testing Registry: Fibrous dysplasia of jaw (http://www.ncbi.nlm.nih.gov/gtr/conditions/C0008029)

You might also find information on the diagnosis or management of cherubism in Educational resources (http://www.ghr.nlm.nih.gov/condition/cherubism/show/Educational+resources) and Patient support (http://www.ghr.nlm.nih.gov/condition/cherubism/show/Patient+support).

General information about the diagnosis (http://ghr.nlm.nih.gov/handbook/consult/diagnosis) and management (http://ghr.nlm.nih.gov/handbook/consult/treatment) of genetic conditions is available in the Handbook. Read more about genetic testing (http://ghr.nlm.nih.gov/handbook/testing), particularly the difference between clinical tests and research tests (http://ghr.nlm.nih.gov/handbook/testing/researchtesting).

To locate a healthcare provider, see How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

Where can I find additional information about cherubism?

You may find the following resources about cherubism helpful. These materials are written for the general public.

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

What other names do people use for cherubism?

  • Familial benign giant-cell tumor of the jaw
  • Familial fibrous dysplasia of jaw
  • Familial multilocular cystic disease of the jaws

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines (http://ghr.nlm.nih.gov/ConditionNameGuide) and How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What if I still have specific questions about cherubism?

Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).

What glossary definitions help with understanding cherubism?

autosomal ; autosomal dominant ; benign ; bone loss ; bone remodeling ; cell ; disabilities ; disability ; dysplasia ; familial ; fibrosis ; gene ; gingival ; gums ; immune system ; incidence ; inflammation ; inherited ; lower jaw ; mandible ; maxilla ; mutation ; protein ; puberty ; short stature ; stature ; syndrome ; tissue ; tumor ; upper jaw

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Carvalho Silva E, Carvalho Silva GC, Vieira TC. Cherubism: clinicoradiographic features, treatment, and long-term follow-up of 8 cases. J Oral Maxillofac Surg. 2007 Mar;65(3):517-22. (http://www.ncbi.nlm.nih.gov/pubmed/17307601?dopt=Abstract)
  • de Lange J, van Maarle MC, van den Akker HP, Redeker EJ. A new mutation in the SH3BP2 gene showing reduced penetrance in a family affected with cherubism. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2007 Mar;103(3):378-81. Epub 2006 Sep 26. (http://www.ncbi.nlm.nih.gov/pubmed/17321449?dopt=Abstract)
  • Gene Review: Cherubism (http://www.ncbi.nlm.nih.gov/books/NBK1137)
  • Lo B, Faiyaz-Ul-Haque M, Kennedy S, Aviv R, Tsui LC, Teebi AS. Novel mutation in the gene encoding c-Abl-binding protein SH3BP2 causes cherubism. Am J Med Genet A. 2003 Aug 15;121A(1):37-40. (http://www.ncbi.nlm.nih.gov/pubmed/12900899?dopt=Abstract)
  • Novack DV, Faccio R. Jawing about TNF: new hope for cherubism. Cell. 2007 Jan 12;128(1):15-7. (http://www.ncbi.nlm.nih.gov/pubmed/17218248?dopt=Abstract)
  • Ozkan Y, Varol A, Turker N, Aksakalli N, Basa S. Clinical and radiological evaluation of cherubism: a sporadic case report and review of the literature. Int J Pediatr Otorhinolaryngol. 2003 Sep;67(9):1005-12. Review. (http://www.ncbi.nlm.nih.gov/pubmed/12907058?dopt=Abstract)
  • Peñarrocha M, Bonet J, Mínguez JM, Bagán JV, Vera F, Mínguez I. Cherubism: a clinical, radiographic, and histopathologic comparison of 7 cases. J Oral Maxillofac Surg. 2006 Jun;64(6):924-30. (http://www.ncbi.nlm.nih.gov/pubmed/16713807?dopt=Abstract)
  • Ueki Y, Lin CY, Senoo M, Ebihara T, Agata N, Onji M, Saheki Y, Kawai T, Mukherjee PM, Reichenberger E, Olsen BR. Increased myeloid cell responses to M-CSF and RANKL cause bone loss and inflammation in SH3BP2 "cherubism" mice. Cell. 2007 Jan 12;128(1):71-83. (http://www.ncbi.nlm.nih.gov/pubmed/17218256?dopt=Abstract)
  • Ueki Y, Tiziani V, Santanna C, Fukai N, Maulik C, Garfinkle J, Ninomiya C, doAmaral C, Peters H, Habal M, Rhee-Morris L, Doss JB, Kreiborg S, Olsen BR, Reichenberger E. Mutations in the gene encoding c-Abl-binding protein SH3BP2 cause cherubism. Nat Genet. 2001 Jun;28(2):125-6. (http://www.ncbi.nlm.nih.gov/pubmed/11381256?dopt=Abstract)
  • Von Wowern N. Cherubism: a 36-year long-term follow-up of 2 generations in different families and review of the literature. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2000 Dec;90(6):765-72. Review. (http://www.ncbi.nlm.nih.gov/pubmed/11113824?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: April 2007
Published: September 15, 2014