Short answer · Medically reviewed summary · Last updated: 2026-05-08
Cherubism is a hereditary genetic condition caused by mutations in the SH3BP2 gene. It follows an autosomal dominant inheritance pattern, meaning an affected individual has a 50% chance of passing the mutation to each of their children. Is Cherubism strictly hereditary? Cherubism is both genetic and hereditary.
Is Cherubism hereditary?
Is Cherubism hereditary? The genetic component explained in plain language, reviewed against medical sources, with patient experiences.
Cherubism is a hereditary genetic condition caused by mutations in the SH3BP2 gene. It follows an autosomal dominant inheritance pattern, meaning an affected individual has a 50% chance of passing the mutation to each of their children.
Is Cherubism strictly hereditary?
Cherubism is both genetic and hereditary. It is "genetic" because it is caused by a specific mutation in an individual's DNA, and "hereditary" because this mutation is typically passed down from parent to child. While most cases are inherited, de novo (spontaneous) mutations can occur, meaning the condition can appear in a family with no prior history of Cherubism.
How is Cherubism inherited?
Cherubism follows an autosomal dominant inheritance pattern. This means that only one copy of the mutated SH3BP2 gene is required to manifest the condition. Because of the nature of autosomal dominant inheritance, there is a 50% statistical probability for each offspring of an affected parent to inherit the mutation associated with Cherubism.
Is genetic testing available for Cherubism?
Yes, molecular genetic testing is available to confirm a diagnosis of Cherubism by identifying pathogenic variants in the SH3BP2 gene. Genetic counseling is highly recommended for families to discuss the following:
- The 50% recurrence risk for future pregnancies.
- The high degree of variable expressivity, where family members with the same mutation may show vastly different clinical symptoms.
- The possibility of incomplete penetrance, where an individual may carry the Cherubism mutation but show little to no physical signs.
- Options for prenatal diagnosis or preimplantation genetic testing (PGT) for those planning families.
Next steps
- Consult with a clinical geneticist to discuss testing for the SH3BP2 gene.
- Connect with others on DiseaseMaps.org to share experiences with the 2 community members currently managing Cherubism.
- Speak with an oral and maxillofacial surgeon regarding ongoing monitoring of jaw development.
Medical disclaimer: This information is for educational purposes only and should not replace professional medical advice, diagnosis, or treatment.
References
- NIH Genetic and Rare Diseases Information Center (GARD): Cherubism
- Orphanet: Cherubism (ORPHA:167)
- OMIM (Online Mendelian Inheritance in Man): Cherubism (#118400)
