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Cherubism
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Overview
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.[1]
References
- Cherubism. Genetics Home Reference. http://ghr.nlm.nih.gov/condition=cherubism. Accessed April 5, 2010.
Your Questions Answered
by the Genetic and Rare Diseases Information Center2 question(s) from the public on Cherubism have been answered. See questions and answers. You can also submit a new question.
On this page
General Information
- Genetics Home Reference (GHR) contains information on Cherubism. Click on the link to go to GHR and review the information.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Cherubism. Click on the link to view a sample search on this topic.
- The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Cherubism. Click on the link to go to OMIM and review these resources.