What is Cherubism

Cherubism is a rare genetic disorder that primarily affects the development of the facial bones. It is typically diagnosed in early childhood and is characterized by abnormal growth and swelling of the jaw and cheeks.

Cherubism is caused by mutations in the SH3BP2 gene, which plays a role in regulating bone development and remodeling. These mutations lead to an overgrowth of bone in the lower part of the face, giving affected individuals a cherubic or angelic appearance.

Symptoms of cherubism may include swollen cheeks, a prominent jaw, dental abnormalities, and in severe cases, difficulty with speech, breathing, and eating. The condition is typically painless and non-life-threatening.

Cherubism is usually self-limiting, meaning it tends to improve and stabilize as individuals reach adulthood. However, in some cases, surgical intervention may be necessary to correct severe facial deformities or to address functional issues.

Diagnosis of cherubism is based on clinical examination, medical history, and imaging studies such as X-rays or CT scans. Genetic testing can confirm the presence of SH3BP2 gene mutations.

While there is no cure for cherubism, management focuses on monitoring the condition, addressing any functional or cosmetic concerns, and providing support to affected individuals and their families.