Definition of Cherubism

Cherubism: A genetic disorder of childhood that leads to prominence of the lower face and an appearance reminiscent of the cherubs portrayed in Renaissance art.

Cherubism is due to a problem in bone formation that is largely limited to the upper and lower jaws (the maxilla and mandible) with loss of bone in the jaws and its replacement by excessive amounts of fibrous tissue. These abnormalities often resolve after puberty.

Cherubism is inherited as an autosomal dominant condition. Most boys and girls with it have a parent who had cherubism, while the few children with cherubism without a family history are thought to have a new mutation (a newly arisen gene) for cherubism but can transmit it to their children.

The gene for cherubism is on chromosome 4. It is specifically in chromosome band 4p16.3 and is called SH3BP2 (for SH3-domain binding protein 2). Exactly how a mutation in SH3BP2 leads to cherubism is not yet known.