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 inherited as an autosomal dominant condition. The gene responsible for cherubism is called SH3BP2 (for SH3-domain binding protein 2). Exactly how a mutation in SH3BP2 leads to cherubism is not known.

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