Short answer · Medically reviewed summary · Last updated: 2026-05-08
The medical classification for Cherubism is identified by ICD-10 code M85.65 (other specified disorders of bone density and structure) and ICD-9 code 526.89 (other specified diseases of the jaws). These codes are used for administrative and diagnostic tracking of Cherubism, a rare genetic condition characterized by the replacement of jawbone tissue with fibrous, cystic lesions. What is the clinical presentation of Cherubism? Cherubism typically manifests in early childhood, often between the ages of 2 and 7, with bilateral, painless swelling of the mandible or maxilla.
ICD10 code of Cherubism and ICD9 code
ICD-10 and ICD-9 codes for Cherubism, with classification details for clinicians, coders and patients.
The medical classification for Cherubism is identified by ICD-10 code M85.65 (other specified disorders of bone density and structure) and ICD-9 code 526.89 (other specified diseases of the jaws). These codes are used for administrative and diagnostic tracking of Cherubism, a rare genetic condition characterized by the replacement of jawbone tissue with fibrous, cystic lesions.
What is the clinical presentation of Cherubism?
Cherubism typically manifests in early childhood, often between the ages of 2 and 7, with bilateral, painless swelling of the mandible or maxilla. This gives patients the characteristic "cherubic" appearance for which the condition is named. As the fibrous lesions grow, they may cause displacement of teeth, malocclusion, and, in severe cases, difficulty with speech or swallowing. While Cherubism is usually self-limiting and tends to stabilize or regress after puberty, the emotional impact of the facial changes during childhood can be significant.
Is Cherubism hereditary?
Yes, Cherubism is an autosomal dominant genetic disorder. It is most commonly caused by mutations in the SH3BP2 gene located on chromosome 4p16. Because it follows an autosomal dominant pattern, a child has a 50% chance of inheriting the mutated gene if one parent is affected. Genetic counseling is highly recommended for families navigating a Cherubism diagnosis to understand the risks of transmission and the variable expressivity of the condition.
How is Cherubism diagnosed and managed?
Diagnosis is usually confirmed through a combination of clinical examination, dental imaging, and genetic testing. Management is typically conservative because the lesions often regress as the patient matures. The following clinical approach is often employed:
- Radiographic monitoring: Serial panoramic X-rays or CT scans to track the progression of fibrous lesions.
- Dental care: Orthodontic management to address tooth displacement or eruption delays caused by Cherubism.
- Surgical intervention: Reserved for cases with severe functional impairment, significant cosmetic distress, or airway obstruction.
- Psychosocial support: Therapy to help children and adolescents manage the psychological impact of facial changes.
Next steps
- Consult with a maxillofacial surgeon or a pediatric craniofacial specialist for expert evaluation.
- Seek a referral to a clinical geneticist to confirm the SH3BP2 mutation.
- Connect with the 2 community members on DiseaseMaps.org who have shared their experiences with Cherubism.
Medical disclaimer: This information is for educational purposes only and does not replace professional medical advice, diagnosis, or treatment.
References
- Orphanet: ORPHA166 (Cherubism)
- NIH GARD: Genetic and Rare Diseases Information Center - Cherubism
- OMIM: Online Mendelian Inheritance in Man - #118400 (Cherubism)
- PubMed: National Library of Medicine - Review of SH3BP2-related bone disorders
