What is Cherubism

TL;DR: Cherubism is a rare, inherited genetic condition characterized by the progressive, painless enlargement of the jawbones, which often gives individuals a distinct, round-faced appearance. While the condition typically regresses after puberty, it requires careful monitoring by a multidisciplinary medical team to manage potential dental and functional complications.

What is the underlying cause of Cherubism?

Cherubism is primarily caused by mutations in the SH3BP2 gene, which plays a critical role in regulating bone-remodeling cells. In individuals with Cherubism, this genetic change leads to an overactive immune response within the bone, causing healthy bone tissue to be replaced by fibrous, cyst-like growths. This process is typically inherited in an autosomal dominant pattern, meaning a child has a 50% chance of inheriting the mutation if one parent is affected.

How does Cherubism affect the body?

The primary impact of Cherubism is localized to the mandible (lower jaw) and maxilla (upper jaw). As fibrous tissue replaces bone, the jaw expands, which may lead to the following clinical features:

• Symmetrical, painless swelling of the cheeks and jaw.


• Displacement or premature loss of primary teeth and eruption failure of permanent teeth.


• Potential difficulties with speech, chewing, or breathing if the jaw expansion is severe.


• Vision or breathing impairment in extremely rare, aggressive cases where the orbital floor or nasal passages are encroached upon.

Who is typically affected by Cherubism?

Cherubism is a rare condition, with an estimated prevalence of less than 1 in 1,000,000 worldwide. Onset typically occurs in early childhood, usually between the ages of 2 and 7. While there is no specific geographic bias, the condition is noted for its variable expressivity—meaning the severity of Cherubism can range significantly even within the same family. It affects males and females equally.

How is Cherubism different from other conditions?

Unlike other jaw-related bone disorders, Cherubism is distinguished by its self-limiting nature; in most patients, the lesions stabilize and begin to regress or ossify as they transition into adulthood. While the cosmetic appearance is often a primary concern, the condition does not typically affect systemic health or cognitive development. At DiseaseMaps.org, we have seen members navigate these unique challenges, highlighting the importance of specialized dental and maxillofacial care.

Next steps

• Consult with a maxillofacial surgeon or a pediatric dentist experienced in rare skeletal conditions.


• Request a referral to a clinical geneticist to discuss the SH3BP2 mutation and family planning.


• Join the DiseaseMaps.org community to connect with other families living with Cherubism.


• Schedule regular panoramic or 3D imaging (CBCT) to monitor jaw development and tooth eruption.

Medical disclaimer: This information is for educational purposes only and does not constitute professional medical advice, diagnosis, or treatment; always seek the advice of your physician or other qualified health provider.

References

• NIH Genetic and Rare Diseases Information Center (GARD): Cherubism overview.


• Orphanet: Rare disease database entry for Cherubism (ORPHA:166).


• OMIM (Online Mendelian Inheritance in Man): Entry #118400 (SH3BP2-related Cherubism).


• National Library of Medicine (PubMed): Clinical literature on the pathogenesis of SH3BP2 mutations.