Is Cherubism contagious?

Cherubism is not contagious; it is a rare genetic condition and cannot be spread through touch, proximity, or any form of social contact. Because it is caused by a mutation in the SH3BP2 gene, there is zero risk of transmission to family members, caregivers, or friends.

What causes Cherubism?

Cherubism is an autosomal dominant genetic disorder caused by mutations in the SH3BP2 gene. This gene provides instructions for making a protein involved in bone remodeling. In Cherubism, these mutations lead to the replacement of normal jawbone tissue with fibrous, cyst-like lesions. It is not an infection, nor is it caused by environmental factors, diet, or lifestyle choices.

Why is there confusion regarding contagion?

The visual characteristics of Cherubism, such as the symmetrical enlargement of the lower face and the characteristic "upward-looking" eyes, are sometimes misunderstood by the public. Because the condition manifests as a physical growth, individuals unfamiliar with rare diseases may mistakenly assume it is an infectious process or a tumor that could spread. It is vital to emphasize that Cherubism is entirely benign in its transmission status.

Is Cherubism hereditary?

Yes, Cherubism is typically inherited in an autosomal dominant pattern. Key facts about its inheritance include:

• A single copy of the altered gene in each cell is sufficient to cause the condition.


• There is a 50% chance that an affected parent will pass the SH3BP2 mutation to their child.


• In some cases, Cherubism occurs as a "de novo" (new) mutation in an individual with no family history of the disorder.

How does living with Cherubism affect others?

Living with or being near someone with Cherubism poses absolutely no health risk to others. The condition is not viral, bacterial, or fungal, and it cannot be "caught." Stigma often arises from a lack of awareness, but understanding that Cherubism is a non-communicable genetic developmental process is essential for fostering an inclusive environment for patients.

Next steps

• Consult with a clinical geneticist to discuss family planning and inheritance patterns.


• Connect with the DiseaseMaps.org community to share experiences with others navigating the same journey.


• Seek care from a multidisciplinary team including oral and maxillofacial surgeons and endocrinologists.

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: Rare disease database entry for Cherubism (ORPHA:167).


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