Cherubism

Common Name(s)

Cherubism

Cherubism is a rare disorder characterized by abnormal bone tissue in the lower part of the face. The enlarged bone is replaced with painless, cyst-like growths that give the cheeks a swollen, rounded appearance and frequently interfere with normal tooth development. The condition may be mild or severe. People with the severe form may have problems with vision, breathing, speech, and swallowing. Many adults with cherubism have a normal facial appearance. Most people with cherubism do not any other signs and symptoms. The condition is inherited in an autosomal dominant fashion and is caused by mutations in the SH3BP2 gene., in most cases.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Cherubism" 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

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Cherubism" returned 28 free, full-text research articles on human participants. First 3 results:

Cherubism allele heterozygosity amplifies microbe-induced inflammatory responses in murine macrophages.
 

Author(s): Virginie Prod'Homme, Laurent Boyer, Nicholas Dubois, Aude Mallavialle, Patrick Munro, Xavier Mouska, Isabelle Coste, Robert Rottapel, Sophie Tartare-Deckert, Marcel Deckert

Journal: J. Clin. Invest.. 2015 Apr;125(4):1396-400.

 

Cherubism is a rare autoinflammatory bone disorder that is associated with point mutations in the SH3-domain binding protein 2 (SH3BP2) gene, which encodes the adapter protein 3BP2. Individuals with cherubism present with symmetrical fibro-osseous lesions of the jaw, which are attributed ...

Last Updated: 2 Apr 2015

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Living with orofacial conditions: psychological distress and quality of life in adults affected with Treacher Collins syndrome, cherubism, or oligodontia/ectodermal dysplasia-a comparative study.
 

Author(s): Amy Østertun Geirdal, Solfrid Sørgjerd Saltnes, Kari Storhaug, Pamela Åsten, Hilde Nordgarden, Janicke Liaaen Jensen

Journal: Qual Life Res. 2015 Apr;24(4):927-35.

 

The relationship between quality of life, psychological distress, and orofacial syndromes in children and adolescents has been reported in several studies. However, little is known about differences in psychological distress and quality of life among adults with different orofacial ...

Last Updated: 20 Mar 2015

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Cherubism: a case report.
 

Author(s): Octavian Dincă, Emilia Severin, Cristian Vlădan, Dana Cristina Bodnar, Alexandru Bucur

Journal: Rom J Morphol Embryol. 2014 ;55(2 Suppl):655-8.

 

Cherubism is a familial benign fibro-osseous disease of the jaws. On radiography, the lesions exhibit bilateral multinuclear radiolucent areas. Histopathology reveals multinucleated giant cells in the background of proliferating fibrous connective tissue. Mutations in the SH3BP2 gene ...

Last Updated: 2 Sep 2014

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Cherubism" returned 5 free, full-text review articles on human participants. First 3 results:

A c.1244G>A (p.Arg415Gln) mutation in SH3BP2 gene causes cherubism in a Turkish family: report of a family with review of the literature.
 

Author(s): Ahmet-Ercan Sekerci, Burhan Balta, Munis Dundar, Ying Hu, Ernst-J Reichenberger, Osman-A Etoz, Sinan Nazlim, Ibrahim-Sevki Bayrakdar

Journal:

 

The present study was aimed at advancing the understanding of the pathogenesis of cherubism by presenting a case study based on history, physical examination, typical radiological features, molecular and histopathological laboratory tests and a review of the literature.

Last Updated: 30 Jun 2014

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The role of SH3BP2 in the pathophysiology of cherubism.
 

Author(s): Ernst J Reichenberger, Michael A Levine, Bjorn R Olsen, Maria E Papadaki, Steven A Lietman

Journal: Orphanet J Rare Dis. 2012 May;7 Suppl 1():S5.

 

Cherubism is a rare bone dysplasia that is characterized by symmetrical bone resorption limited to the jaws. Bone lesions are filled with soft fibrous giant cell-rich tissue that can expand and cause severe facial deformity. The disorder typically begins in children at ages of 2-5 ...

Last Updated: 29 May 2012

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Cherubism: best clinical practice.
 

Author(s): Maria E Papadaki, Steven A Lietman, Michael A Levine, Bjorn R Olsen, Leonard B Kaban, Ernst J Reichenberger

Journal: Orphanet J Rare Dis. 2012 May;7 Suppl 1():S6.

 

Cherubism is a skeletal dysplasia characterized by bilateral and symmetric fibro-osseous lesions limited to the mandible and maxilla. In most patients, cherubism is due to dominant mutations in the SH3BP2 gene on chromosome 4p16.3. Affected children appear normal at birth. Swelling ...

Last Updated: 29 May 2012

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Natural History of Cherubism Observational Study
 

Status: Recruiting

Condition Summary: Cherubism

 

Last Updated: 2 Aug 2013

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Genetic and Functional Analysis of Cherubism
 

Status: Recruiting

Condition Summary: Cherubism

 

Last Updated: 1 Dec 2014

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