Cherubism

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Cherubism (pronounced: /ˈtʃɛrəˌbɪzəm/) is a rare genetic disorder that causes prominence in the lower portion of the face. The term is derived from the Greek word 'cherub', referring to the chubby, rosy-cheeked angelic beings depicted in art, as the facial appearance of individuals with this condition can resemble that of a cherub.

Definition

Cherubism is characterized by the replacement of jawbones with fibrous tissue, leading to a characteristic "cherubic" facial appearance. This condition typically becomes apparent in childhood and progresses until puberty, after which it stabilizes or regresses.

Symptoms

The primary symptom of cherubism is the enlargement of the mandible and/or maxilla. This can lead to a range of secondary symptoms, including misalignment of the teeth, difficulty speaking, and difficulty swallowing.

Causes

Cherubism is caused by mutations in the SH3BP2 gene. This gene provides instructions for making a protein involved in transmitting chemical signals from the cell surface into the cell. Mutations in the SH3BP2 gene lead to an overactive SH3BP2 protein, which promotes the development of osteoclasts, cells that break down bone tissue. This leads to the characteristic bone loss and fibrous tissue growth seen in cherubism.

Treatment

There is currently no cure for cherubism. Treatment is symptomatic and may include surgery to improve facial appearance and function, dental treatments to address tooth misalignment, and speech therapy to address difficulties with speech.

See also

External links

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