Cherubism is a rare fibro-osseous disorder of childhood, generally limited to the lower half of the face, the maxilla, and mainly, the mandible. The age of onset ranges between 6 and 10 years of age and symptoms include bilateral painless swelling of the jaw (as bone is replaced by cyst-like growths), abnormal teeth, thick gums, multicystic bone tumours, and eyes-to-heaven look. In severe cases, the disorder causes problems with speech, breathing, swallowing, and vision. The disorder has inconsistent expressivity and penetrance with a 100% penetrance in males and 50-70% penetrance in females. Cherubism might regress without treatment and in rare cases develop gradually. Surgical treatment for correcting the jaw deformities is rarely indicated and should be performed following puberty. Calcitonin and interferon-alpha are being examined for their benefits in treating cherubism.

Cherubism is linked to mutations in the SH3BP2 (SH3 Domain Binding Protein 2) gene, which encodes a protein that is involved in signal transduction mainly in cells associated with bone remodeling and immune system. Mutations in this gene may lead to over-expression of proteins that affect osteoclasts leading to the destruction of bone in the upper and lower jaws. The combination of inflammation and bone loss possibly causes the cyst-like growths leading to the disorder.