Cherubism

Cherubism is a rare hereditary skeletal disorder characterized by bilateral, symmetrical, painless swelling of the jaws, giving the face a round, full-cheeked appearance reminiscent of Renaissance cherub paintings — hence the name. The condition is caused by mutations in the SH3BP2 gene on chromosome 4p16.3, which leads to excessive bone resorption and replacement of normal jawbone with fibrous tissue containing multinucleated giant cells. The mandible (lower jaw) is most commonly affected, though the maxilla (upper jaw) can also be involved. Swelling typically becomes apparent in early childhood, usually between ages 2 and 7, and may progressively enlarge through puberty before stabilizing or partially regressing in adulthood. Clinically, cherubism primarily affects the skeletal system, specifically the bones of the jaw. Key features include bilateral jaw enlargement, displacement or absence of teeth, premature loss of deciduous (baby) teeth, failure of permanent teeth to erupt, and dental malocclusion. In more severe cases, maxillary involvement can push the orbital floor upward, causing the eyes to appear to gaze upward — a classic sign described as "eyes raised to heaven." Orbital involvement may also lead to visual disturbances. Radiographically, the jaws show well-defined multilocular radiolucent (cyst-like) lesions that replace normal bone. The severity of the condition is highly variable, even within the same family, ranging from mild cases detectable only on X-ray to severe disfigurement. There is no definitive cure for cherubism. Management is primarily supportive and may include dental and orthodontic care to address tooth displacement and malocclusion. Surgical intervention, such as curettage or recontouring of the jaw, may be considered in cases with significant functional impairment (e.g., difficulty breathing, eating, or speaking) or for cosmetic reasons, though surgery is often deferred until after puberty when the lesions tend to stabilize or regress. Calcitonin and other anti-resorptive agents have been explored in some cases but are not established treatments. Regular monitoring with clinical examination and imaging is recommended to track disease progression.

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

Common questions about Cherubism