Cherubism

**Semantic type:** Disease or Syndrome

**Definition:** A rare autosomal dominant inherited disorder usually caused by mutations in the SH3BP2 gene. It is characterized by a prominent lower part of the face due to bilateral replacement of the mandibular or maxillary bones by lesions. The lesions contain osteoclast-like cells admixed with spindle-shaped mononuclear stromal cells. With time, the lesions become more fibrotic and less osteoclast-rich.

**Synonyms:** - Familial Fibrous Dysplasia of the Jaws - Familial Multilocular Cystic Disease of the Jaws