Cherubism OMIM

Description: cherubism can be caused by mutations in the SH3BP2 gene. Swelling of the lower face begins around the third or fourth year of life and progresses until the late teens. The enlargement may be exaggerated by enlargement of submandibular lymph nodes. X-ray reveals multilocular cystic changes in the mandible and maxilla and often in the anterior ends of the ribs. Though clinical swelling usually abates by the third decade, radiographic changes commonly persist into the fourth decade. The condition must be differentiated from Caffey disease (114000) in which the x-ray appearance is different and involvement of the skeleton, e.g., the tibia, is more widespread. It is, like Caffey disease, a benign self-limited condition. The disorder has also been called familial benign giant-cell tumor of the jaw, familial multilocular cystic disease of the jaw, etc.