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.
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Hereditary giant cell lesions of the jaws beginning in early childhood; multilocular radiolucencies and progressive symmetric painless swelling of the jaws; bilateral; occurs with no associated systemic manifestations. SYN: fibrous dysplasia of jaws. [Hebr. kerubh, cherub]

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cher·ub·ism 'cher-(y)ə-.biz-əm n a hereditary condition characterized by swelling of the jawbones and esp. in young children by a characteristic facies marked by protuberant cheeks and upturned eyes

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cher·ub·ism (cherґəb-iz-əm) [cherub + -ism] hereditary and progressive bilateral swelling at the angle of the mandible, sometimes involving the entire jaw. The swelling imparts a cherubic look to the face, in some cases enhanced by upturning of the eyes. Called also fibrous dysplasia of jaw and familial bilateral giant cell tumor.

Cherubism resulting in fullness of the maxilla.


Medical dictionary. 2011.

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