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cherubism (CRBM) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

cherubism

MONDO:0007315

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

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Overview

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.

GeneticsAutosomal dominant · SH3BP2 (chr 4)

Clinical Trials1 registered · 1 recruiting

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Central giant cell lesion of the jaw; and very common findings: Jaw swelling. 17 total HPO annotations.

Organ System	Phenotype Count	Example Features
Eyes	3	Visual impairment, Macular scar, Optic neuropathy

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

SH3BP2 function has not been fully characterized.

Cherubism is associated with mutations in the SH3BP2 gene on chromosome 4.

GeneReviews

Clinical Guidance

No clinically relevant genotype-phenotype correlations have been identified.

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

No consensus clinical diagnostic criteria for cherubism have been published.

Suggestive Findings

Cherubism should be suspected in individuals with the following clinical, radiologic, and histologic findings and family history.

Clinical findings

Source: GeneReviews — "Cherubism"

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for cherubism. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

No clinical practice guidelines for cherubism have been published. In the absence of published guidelines, the following recommendations are based on the authors' personal experience managing individuals with this disorder. Evaluations Following Initial Diagnosis To establish the extent of disease in an individual diagnosed with cherubism, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 3. Cherubism: Recommended Evaluations Following Initial Diagnosis

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

To monitor existing manifestations, the individual's response to supportive care, and the emergence of new manifestations, the evaluations summarized in are recommended. Table 5. Cherubism: Recommended Surveillance

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

30 publications have been identified in PubMed for cherubism. Research spans Case Report / Case Series (53%), Basic Science / Preclinical (23%), and Review / Meta-Analysis (13%).

Research Type	Count	% of Total
Patient case studies	16	53%

Data assembled from 8 of 12 sources · Last updated Sep 18, 2026, 2:44 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:118400

Orphanet

European rare disease database

Orphanet:184

GARD

Genetic and Rare Diseases Info Center

GARD:6036

Questions for Your Care Team

→Are any of the 1 active clinical trial a good fit for my situation?
→Should I pursue genetic testing for SH3BP2, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

Differential Diagnosis

Disorders of interest in the differential diagnosis of cherubism are listed in and . Table 2a. Genes of Interest in the Differential Diagnosis of Cherubism

Gene(s)	Disorder	MOI	Features of Disorder
Noonan syndrome w/multiple lentigines	AD(AR)2	Giant cell lesions of bones soft tissues frequently found in jaws	Characteristic facial neurocutaneous findings; Congenital anomalies in multiple systems
CDC73	Hyperparathyroidism-jaw tumor syndrome (See CDC73-Related Disorders.)	AD	Benign ossifying fibromas of mandible or maxilla; Occasionally bilateral/multifocal recurrent
GCM2	Familial isolated hyperparathyroidism (OMIM PS145000)	ADAR	Brown tumors (rare benign giant cell lesions) resulting from parathyroid hormone effects on bone tissue in persons w/hyperparathyroidism; Can occur in both maxilla mandible4
GNAS	Fibrous dysplasia/ McCune-Albright syndrome (FD/MAS)	See footnote 5.	Craniofacial form of FD/MAS may show clinical radiologic overlap w/cherubism thus be difficult to differentiate.6

Source: GeneReviews — "Cherubism"

System/Concern	Evaluation	Comment
Jaw lesions	Eval in craniofacial clinic	Incl oral maxillofacial surgery, plastic surgery, dentistry/orthodontics, otolaryngology, child psychology or social work Radiologic assessment to determine facial bone involvement
Feeding	Assessment by speech therapist, incl swallowing assessment	To determine if there is backward displacement of tongue or obliteration of nasal airway
Dental	Orthodontic assessment	Usually required after osseous growth is completed but may be required concomitantly w/fixed orthodontic appliances
Respiratory	Assessment of respiratory status	Assess for presence or absence of mouth breathing, snoring, chronic nasal infection, obstructive sleep apnea. Consider overnight polysomnogram.
Eyes	Ophthalmologic exam	—
Genetic counseling	By genetics professionals3	To obtain a pedigree inform affected persons their families re nature, MOI, implications of cherubism to facilitate medical personal decision making Family support
resources	By clinicians, wider care team, family support organizations	Assessment of family social structure to determine need for:; Community or such as Parent to Parent; Social work involvement for parental support; Home nursing referral MOI = mode of inheritance 1. 2.
Cherubism: Treatment of Manifestations Manifestation/Concern	Treatment	Considerations/Other
Jaw lesions	Mgmt by craniofacial clinic w/pediatric experience	Craniofacial clinic assoc w/major pediatric medical center usually includes surgical team, dentist, orthodontic specialist, ophthalmologist, child psychologist or social worker; Surgical interventions include curettage w/ or w/o bone grafting.1

Kisho

cherubism

Overview

Clinical Presentation

Genetic Landscape

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Clinical Guidance

Explore clinical features

Penetrance

Differential Diagnosis

Therapies Under Investigation

Clinical Trials

Recent Publications

cherubism

Overview

Clinical Presentation

Genetic Landscape

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Clinical Guidance

Explore clinical features

Penetrance

Differential Diagnosis

Therapies Under Investigation

Clinical Trials

Recent Publications