cherubism

MONDO:0007315Mondo

Findings

No curated finding names cherubism yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

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.

Definition from the Mondo Disease Ontology (MONDO:0007315), read 2026-09-29. CC BY 4.0.

Inheritance: Autosomal dominant inheritance
Onset and course: Juvenile onset · Young adult onset · Childhood onset

Features

29 features

What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.

Central giant cell lesion of the jawHPOHP:6000715
- 1 of 1 reported patient
Jaw swellingHPOHP:0030793
- 20 of 24 reported patients
Abnormal mandible morphologyHPOHP:0000277
- Very frequent (80% to 99% of cases)
Bone cystHPOHP:0012062
- Very frequent (80% to 99% of cases)
Broad jawHPOHP:0012802
- Very frequent (80% to 99% of cases)
Full cheeksHPOHP:0000293
- Very frequent (80% to 99% of cases)
Round face

Show the remaining 17

Feeding difficulties in infancyHPOHP:0008872
- Occasional (5% to 29% of cases)
Obstructive sleep apneaHPOHP:0002870
- Occasional (5% to 29% of cases)
Optic atrophyHPOHP:0000648
- Occasional (5% to 29% of cases)
Progressive visual lossHPOHP:0000529
- Occasional (5% to 29% of cases)
ProptosisHPOHP:0000520
- Occasional (5% to 29% of cases)
Upper airway obstructionHPOHP:0002781
- Occasional (5% to 29% of cases)

Genes

1 gene

Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.

SH3BP2HGNC:10825
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
- Limited · G2P · Autosomal dominant · 2023

Where it sits

A kind of: autoinflammatory syndrome
autosomal dominant disease
hereditary disorder of connective tissue
hereditary neoplastic syndrome
multiple congenital anomalies/dysmorphic syndrome without intellectual disability
skeletal system disorder
Narrower terms (1): Al Gazali Khidr Prem Chandran syndrome

Other names

3 names

Resolves to: cherubism

Also called: CRBMfamilial fibrous dysplasia of the jawsfamilial multilocular cystic disease of the jaws