This information is provided by the National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD).
Cherubism is a rare disorder characterized by progressive, painless, bilateral swelling of the jaw during childhood. This fibro-osseous (bone structure) condition is self-limiting, with symptoms typically resolving in adulthood.[2497][13173][13174][13175][13176][13177] Diagnosis is based on a combination of clinical signs, family history, radiographic findings (panoramic x-rays, CT scan), biopsy, and genetic testing.[2497][13173][13175][13177] Cherubism is inherited in an autosomal dominant fashion and is caused by mutations in the SH3BP2 gene.[2497][13173][13174][13175][13176][13177] Treatment tends to be conservative (wait-and-see), with surgery reserved for the most severe cases.[13174][13175][13176][13177]
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