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

Anderson Gabriel Cabanillas-Aquino, Milagros Carina Rojas-Yauri, Katherine Joselyn Atoche-Socola, Luis Ernesto Arriola-Guillén

Research output: Contribution to journalShort surveypeer-review

2 Scopus citations


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.

Original languageEnglish
Pages (from-to)511-515
Number of pages5
JournalJournal of Stomatology, Oral and Maxillofacial Surgery
Issue number5
StatePublished - Nov 2021


  • Craniofacial characteristic
  • Craniofacial feature
  • Growth and development
  • Malocclusions
  • Maxillary bone growth
  • Treacher Collins


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