Treacher Collins syndrome and implications in the oral cavity

Background and Objective: Treacher Collins syndrome, also called mandibula-facial dysostosis, is a congenital disorder. It is the aim of this work to clarify the etiology, diagnosis, phenotypic craniofacial and oral characteristics of the syndrome, as well as to discuss the treatments to be applied. Methods: A bibliographic search was performed using the keywords: "Treacher Collins Syndrome", "treatment", "dental", "oral cavity", "TCOF1 gene". Results: Most cases have an autosomal dominant transmission and variable expressivity. Mutations in the TCOF1 gene on chromosome 5 are usually known to cause Treacher Collins syndrome. The phenotypic craniofacial features are: micrognathia, maxillary hypoplasia with palate cleft, malar hypoplasia, antimongoloid inclination of palpebral fissures, coloboma of lower eyelid and microtia. Problems in the oral cavity are frequent in these patients because the deficiencies of the bone bases provoke crowding and can lead to incorrect bite. Other oral manifestations include reduced salivary flow, high levels of caries and plaque. Conclusions: Diagnosis and treatment should be performed in an early stage and are important for the reestablishment of masticatory, respiratory and auditory functions. *Correspondence to: Lopes Cardoso I, Faculdade de Ciências da Saúde, Universidade Fernando Pessoa Rua Carlos da Maia, 296, 4200-150 Porto, Portugal, Tel: +351 225071300; E-mail: mic@ufp.edu.pt