Treacher Collins syndrome: Craniofacial and dental manifestations [Síndrome de Treacher Collins: Manifestaciones craneofaciales y dentales]
DOI:
https://doi.org/10.62574/jn52rm29Keywords:
mandibulofacial dysostosis, craniofacial anomalies, malocclusionAbstract
Objective: To synthesise recent evidence on clinical characteristics, diagnosis, and dental management in Treacher Collins syndrome. Method: Systematic review following PRISMA guidelines. Fifteen articles published between 2020 and 2025 in PubMed and specialised journals were analysed, using MeSH terms: ‘Treacher Collins Syndrome’, ‘craniofacial anomalies’, ‘dental abnormalities’, “malocclusion” and ‘mandibular hypoplasia’. Results: Treacher Collins syndrome has an incidence of 1:50,000 births with heterogeneous phenotypic expression. The main manifestations include malar and mandibular hypoplasia, eyelid colobomas, ear malformations (microtia/anotia), conductive hearing loss, malocclusions, dental eruption abnormalities, and temporomandibular dysfunction. Pathogenic variants in the TCOF1 gene are more frequent. A multicentre study of 248 patients identified a high incidence of extracraniofacial anomalies (cardiac, urogenital). Facial deformities have significant psychosocial repercussions: low self-esteem, insecurity, and difficulties with social integration.
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