Cherubism

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Cherubism

ORPHA:184Malformation syndrome

Also called CRBM

What it is

Cherubism is a rare, self-limiting, fibro-osseous, genetic disease of childhood and adolescence characterized by varying degrees of progressive bilateral enlargement of the mandible and/or maxilla, with clinical repercussions in severe cases.

Key facts

Prevalence
<1 / 1 000 000
Age of onset
Childhood
Inheritance
Autosomal dominant, Autosomal recessive, Not applicable
Classified as
Malformation syndrome

Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.

Signs and symptoms

These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.

Gene

SH3BP2Disease-causing germline mutation(s)

ICD-10 codes

K10.8filed under a broader ICD-10 category

Cross-references

GARD 6036MEDDRA 10070535MESH D002636MONDO 0007315OMIM 118400UMLS C0008029

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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