Cherubism is a rare genetic disorder that causes prominence in the lower portion in the face.

The name is derived from the temporary chubby-cheeked resemblance to putti, the chubby-faced infants featured in Renaissance paintings, which were often mistakenly described as cherubs.

The appearance of people with the disorder is caused by a loss of bone in the mandible which the body replaces with excessive amounts of fibrous tissue.

Osteoclastic and osteoblastic remodeling contributes to the change of normal bone to fibrous tissue and cyst formation.

As noted by the name, the patient's face becomes enlarged and disproportionate due to the fibrous tissue and atypical bone formation.

The cause of cherubism is believed to be traced to a genetic defect resulting from a mutation of the SH3BP2 gene from chromosome 4p16.3.

Cherubism is displayed with genetic conformation and when excessive osteoclasts are found in the affected areas of the mandible and maxilla.

Cherubism has also been found from the random mutation of a gene in an individual having no family history of the condition.

Studies of multiple generations of families with the gene found that all boys developed cherubism, but 30–50% of girls show no symptoms.

Osteoclasts also sense the increased inflammation of the mandible and maxilla and are further activated to break down bone structures.

Severe cases may require surgery to eliminate bulk cysts and fibrous growth of the maxilla and mandible.

Patients with orbital issues of diplopia, eye proptosis, and visual loss will require ophthalmologic treatment.

However, a 2006 study which followed 7 cases over an average of 8.5 years noted that "In general, cherubism does not have a poor prognosis.

As the patient grows to adulthood, the jawbone lesions tend to resolve, and a progressively more normal jaw configuration is noted.

"[9] Cherubism was first documented and named in 1933 by Dr. W. A. Jones of Kingston, Ontario, describing a case of three siblings of the same family of Jewish Russian heritage.