Assessment of craniofacial and dental characteristics in individuals with treacher collins syndrome. A review

J Stomatol Oral Maxillofac Surg. 2021 Nov;122(5):511-515. doi: 10.1016/j.jormas.2020.10.011. Epub 2020 Nov 7.


Treacher Collins Syndrome (TCS) is a genetic disorder with predominantly autosomal dominant inheritance, associated with different mutations in specific genes. This review aimed to evaluate the facial, temporomandibular, zygomatic and bucco-dental phenotype in TCS individuals, and describe surgical and non-surgical solutions for each case in order to improve the quality of life of these individuals. A review of the literature on the craniofacial characteristics of the TCS was carried out, using the PICO strategy, and then a systematic search method was performed in Medline, Scopus, LILACS and SCIELO databases, identifying articles of impact and relevance until 10 June 2020, 240 articles were recovered and only 35 fulfilled the selection criteria. We found the main craniofacial and oral morphological characteristics of these individuals, and the possible functional alterations inducing repercussion in the stomatognathic apparatus. Among other characteristics, the most representative include hypoplasia in the zygomatic and mandibular complex, which can cause difficulty in breathing and feeding. In some cases, cleft palate and malocclusions such as anterior open bite may lead to Angle's Class II malocclusion, sometimes causing problems in the temporomandibular joint. In conclusion, individuals with TCS have specific craniofacial features including maxillary hypoplasia, altered orbital zones, mandibular retrognathia, and temporomandibular disorders. Oral deformities produce to a higher prevalence of caries and calculus formation because of poor hygiene due to the malformations present in these patients.

Keywords: Craniofacial characteristic; Craniofacial feature; Growth and development; Malocclusions; Maxillary bone growth; Treacher Collins.

Publication types

  • Review

MeSH terms

  • Cleft Palate*
  • Face
  • Humans
  • Mandible
  • Mandibulofacial Dysostosis* / diagnosis
  • Mandibulofacial Dysostosis* / epidemiology
  • Mandibulofacial Dysostosis* / genetics
  • Quality of Life