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 20 free, full-text research articles on human participants. First 3 results:

Nonfamilial cherubism.
 

Author(s): A Trivedi, S D Gupta, S Sharma, R Mehta

Journal: J Indian Soc Pedod Prev Dent. ;31(1):43-7.

 

Cherubism is a non neoplastic progressive heredity disease affecting the jaw bones. It is a benign disease with a characteristic symmetrical involvement of the maxilla and mandible. It usually affects children before 5 years of age, with painless progressive swelling of the cheeks, ...

Last Updated: 3 Jun 2013

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Clinical and imagiological findings of central giant cell lesion and cherubism.
 

Author(s): Lucas R Pinheiro, João J V Pinheiro, Sérgio A Júnior, Newton Guerreiro, Marcelo G P Cavalcanti

Journal: Braz Dent J. 2013 ;24(1):74-9.

 

Cone beam computed tomography (CBCT) is the best examination for bone lesions of the maxilla, allowing the dentist to evaluate precisely the behavior and components of the lesion and their relationship to the surrounding structures. Central giant cell lesion and cherubism are histologically ...

Last Updated: 9 May 2013

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Cherubism--a case report with long term follow up.
 

Author(s): Lakshmi V Chavali, R M Rao Bhimalingam, P V Sudhakar

Journal: Indian J Pathol Microbiol. ;54(4):793-5.

 

Cherubism is a rare non-neoplastic disease of the bone characterized by bilateral painless enlargement of the jaws giving a cherubic appearance to the patient. It is an autosomal dominant disorder but may occur sporadically. In this paper, we have tried to explain about the clinical, ...

Last Updated: 11 Jan 2012

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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 4 free, full-text review articles on human participants. First 3 results:

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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Cherubism in siblings: A case report.
 

Author(s): D Sarda, P Kothari, B Kulkarni, P Pawar

Journal: J Indian Soc Pedod Prev Dent. 2007 Mar;25(1):27-9.

 

Cherubism is a benign disease of bones affecting the jaws and giving a characteristic cherubic appearance to the patient. On radiography, the lesions exhibit bilateral multilocular radiolucent areas. Histopathology shows numerous multinucleated giant cells in the background of proliferating ...

Last Updated: 25 Apr 2007

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Genetic and Functional Analysis of Cherubism
 

Status: Recruiting

Condition Summary: Cherubism

 

Last Updated: 27 Aug 2013

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Natural History of Cherubism Observational Study
 

Status: Recruiting

Condition Summary: Cherubism

 

Last Updated: 2 Aug 2013

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