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

Clinicopathologic and Molecular Characteristics of Familial Cherubism with Associated Odontogenic Tumorous Proliferations.
 

Author(s): Prokopios P Argyris, Rajaram Gopalakrishnan, Ying Hu, Ernst J Reichenberger, Ioannis G Koutlas

Journal: Head Neck Pathol. 2018 Mar;12(1):136-144.

 

Cherubism is a rare autosomal dominant condition affecting the jaws and caused by mutations in the gene encoding for the adapter protein SH3BP2 that maps to chromosome 4p16.3. Cherubism is characterized by symmetrically developing bone lesions in the maxilla and mandible. The lesions ...

Last Updated: 31 Dec 1969

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Early Presentation of Cherubism.
 

Author(s): Ips Kochar, Ayesha Ahmad

Journal: Indian Pediatr. 2016 Aug;53(8):751.

 

Last Updated: 31 Dec 1969

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Cherubism. A case report.
 

Author(s): Paolo Cariati, Fernando Monsalve Iglesias, José Fernández Solís, Alfredo Valencia Laseca, Ildefonso Martinez Lara

Journal: Reumatol Clin. ;13(6):352-353.

 

Cherubism is a rare disorder with autosomal dominant inheritance. It is classified as a benign fibro-osseous lesions and may involve either facial bone. Its typical dentofacial deformities are caused by mutations in the SH3BP2 gene. The protein encoded by SH3BP2 had a significant ...

Last Updated: 31 Dec 1969

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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: 31 Dec 1969

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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: 31 Dec 1969

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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: 31 Dec 1969

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

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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: 24 Oct 2017

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