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Oral and maxillofacial manifestations of Charlie M syndrome: A scoping review
F Durfort1, I Berete2, J Ferri1
1Department of Stomatology and Maxillofacial Surgery, Hôpital Salengro, CHU Lille, rue Emile Laine 59037 Lille CEDEX, France.
Objective:
Charlie M syndrome is a rare developmental disorder and part of the larger group of oromandibular-limb hypogenesis syndrome (OLHS) disorders. It affects the mandible, tongue, and maxilla with or without reductive limb anomalies. The objective of this study is to review the literature on the various oral and maxillofacial manifestations of Charlie M syndrome and to evaluate clinical criteria supporting differential diagnosis in the spectrum of Oromandibular-Limb Hypogenesis Syndromes.
Design:
Scoping review following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses Extensions for Scoping Review guidelines (PRISMA-ScR) guidelines. Registered on PROSPERO (CRD420251245541).
Setting:
Literature published between 1976 and August 2026, including clinical case reports of Charlie M syndrome across the oromandibular-Limb Hypogenesis Syndromes spectrum . There were no original articles, cohort studies, or case series.
Patients Participants:
Human subjects diagnosed with Charlie M syndrome and presenting dental or maxillofacial characteristics within the broader spectrum of oromandibular-Limb Hypogenesis Syndromes. A total of 24 patients were included across 22 articles; only 3 cases from 3 separate articles met the strict clinical diagnosis of Charlie M syndrome.
Intervention:
No interventions were applied; this study involved the review of clinical case reports describing oral and maxillofacial manifestations.
Main Outcome Measure:
Oral and maxillofacial manifestations of Charlie M syndrome, including facial asymmetry, micrognathia, microstomia, hypoglossia, cleft palate, and glossopalatine ankylosis.
Result:
In the 3 confirmed cases fulfilling clinical criteria of Charlie M syndrome, facial asymmetry, micrognathia, and hypoglossia were present in all reported patients, while microstomia and short philtrum were observed in two cases. Glossopalatine ankylosis and cleft palate were the least common features, identified in only one patient. Given the limited sample size, these descriptive findings should be interpreted with caution.
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