Short answer · Medically reviewed summary · Last updated: 2026-05-08
Cherubism is a rare genetic disorder characterized by the progressive replacement of jawbone tissue with fibrous, cystic lesions, often giving the face a rounded, "cherubic" appearance. While it is most commonly referred to as Cherubism, it may also be found in medical literature under names such as familial fibrous dysplasia of the jaws or multilocular cystic disease of the jaws. What are the historical and alternative names for Cherubism? Historically, Cherubism was often described by its clinical presentation rather than its genetic cause.
Cherubism synonyms
Other names for Cherubism: synonyms, acronyms and related terms used by doctors and patients.
Cherubism is a rare genetic disorder characterized by the progressive replacement of jawbone tissue with fibrous, cystic lesions, often giving the face a rounded, "cherubic" appearance. While it is most commonly referred to as Cherubism, it may also be found in medical literature under names such as familial fibrous dysplasia of the jaws or multilocular cystic disease of the jaws.
What are the historical and alternative names for Cherubism?
Historically, Cherubism was often described by its clinical presentation rather than its genetic cause. You may encounter the following synonyms in older medical records or international literature:
- Familial fibrous dysplasia of the jaws
- Multilocular cystic disease of the jaws
- Hereditary fibrous dysplasia of the jaws
- Familial intraosseous fibrous swelling of the jaws
These terms are largely considered outdated but reflect the diagnostic focus on the jawbone lesions that define Cherubism.
How is Cherubism classified in medical systems?
In modern clinical practice, Cherubism is the universally accepted terminology. Official classification systems use this name to ensure consistency:
- OMIM (Online Mendelian Inheritance in Man): #118400
- Orphanet: ORPHA166
- ICD-10: D16.5 (Benign neoplasm of lower jaw bone) or related codes for developmental disorders
The condition is caused by mutations in the SH3BP2 gene, which helps researchers and clinicians distinguish Cherubism from other types of fibrous dysplasia.
Why does this condition have multiple names?
The name Cherubism was coined in 1933 by Dr. William Jones, who noted that the children affected by the condition resembled the round-cheeked cherubs found in Renaissance paintings. Before the discovery of the SH3BP2 gene mutation in the early 2000s, clinicians relied on descriptive labels based on the jaw swelling, leading to the variety of synonyms found in historical textbooks. Today, medical professionals prefer the term Cherubism because it is specific and universally recognized in international clinical literature.
Next steps
- Consult an oral and maxillofacial surgeon or a clinical geneticist to confirm a diagnosis through genetic testing.
- Connect with the 2 community members on DiseaseMaps.org who have shared their personal experiences with Cherubism.
- Request a referral to a center specializing in craniofacial anomalies for long-term management.
Medical disclaimer: This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment; always seek the advice of a physician regarding any medical condition.
References
- NIH Genetic and Rare Diseases Information Center (GARD): Cherubism
- Orphanet: Rare disease database, ORPHA166
- Online Mendelian Inheritance in Man (OMIM): #118400
- PubMed: Clinical and genetic updates on SH3BP2-related disorders
