Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Print friendly version

Cherubism


Other Names for this Disease

  • CRBM
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

What is cherubism?

What are the signs and symptoms of cherubism?

What is 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.[1]
Last updated: 8/17/2010

What are the signs and symptoms of cherubism?

Cherubism is 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 very mild and barely noticeable, while in 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.[1]
Last updated: 1/11/2011

References
  1. Cherubism. Genetics Home Reference. April 2007; http://ghr.nlm.nih.gov/condition=cherubism. Accessed 4/5/2010.


Other Names for this Disease
  • CRBM
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.