Treacher collins syndrome: An update from a stomatological point of view

Abstract

Introduction: Treacher Collins syndrome (TCS) is congenital craniofacial disorder, in which mainly the malar, a maxillary hypoplasia and peri orbital anomalies are affected. Objective: To analyze the literature on TCS from a dental perspective, to investigate information on the etiology, diagnosis, clinical and oral manifestations, and its treatment. Methodology: Using the keywords “Treacher Collins”, “etiology”, “prevalence”, “oral manifestations” and “clinical management”, the MEDLINE/PubMed and ScienceDirect databases were searched, with emphasis on the last 5 years. It was evaluated with the PRISMA and AMSTAR-2 guidelines. Results: Its incidence was found to be 1:50000. It is mainly due to 3 genes, POLR1D, POLR1C and TCOF1; these genes manifest individually. Diagnosis can be clinical and by some genetic tests. The most common features range from mandibular hypoplasia, involvement of the external auditory canals, downward palpebral fissures, among others. Most of the anomalies can have an impact on tooth eruption, malocclusion and temporomandibular joint. The maxillary and mandibular cranial region is the most affected in this syndrome. The most common treatments in dentistry are orthodontics, palate correction and cleft lip. Conclusions: It is important to know the affectations that these patients present to be able to provide a better diagnosis and have in mind which are the possible treatments that we can apply to these patients. The work is multidisciplinary and begins at an early age to increase the quality of life and lifestyle.