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Updated: Feb 28, 2026

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Cherubism: An African-Focused Review.

Salma Kabbashi1, Imaan A Roomaney1, Martin Douglas-Jones2

  • 1Department of Craniofacial Biology, Pathology and Radiology, Faculty of Dentistry, University of the Western Cape, Cape Town 7505, South Africa.

Children (Basel, Switzerland)
|February 27, 2026
PubMed
Summary

Limited African data exists for cherubism, a rare jaw disorder. Studies show delayed presentation, reliance on clinical diagnosis, and infrequent genetic testing, highlighting a need for better diagnostics and registries.

Keywords:
AfricaSH3BP2cherubismfibro-osseous lesionsgenetic diagnosismaxillofacial pathologypaediatric craniofacial disorders

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Area of Science:

  • Genetics
  • Oral and Maxillofacial Surgery
  • Pediatric Dentistry

Background:

  • Cherubism is a rare, genetically heterogeneous fibro-osseous jaw disorder.
  • Existing literature primarily focuses on non-African populations, with limited African data.
  • Molecular confirmation in African cherubism cases is scarce.

Purpose of the Study:

  • To review and synthesize published African cherubism cases.
  • To describe presentation patterns, diagnostic approaches, and management strategies.
  • To assess the extent of genetic investigation in African cherubism.

Main Methods:

  • Structured narrative literature review of PubMed, Scopus, Google Scholar, and African Journals Online.
  • Inclusion of peer-reviewed case reports and series on African cherubism patients.
  • Data extraction on demographics, clinical/radiological/histological findings, management, and genetic testing.

Main Results:

  • 14 studies reported 20 cases from 8 African countries, predominantly North Africa.
  • Median age at presentation (13.75 years) suggests delayed healthcare access despite early childhood onset.
  • Molecular genetic testing was reported in only 2 cases; diagnoses relied on clinical/radiological/histopathological features.

Conclusions:

  • African cherubism literature is limited, geographically skewed, and lacks comprehensive genetic reporting.
  • Delayed presentation, clinical diagnosis, and minimal molecular testing are recurring themes.
  • Gaps in reporting and genetic characterization necessitate improved molecular diagnostics, multidisciplinary care, and African registries.