Prevention methods for Treacher Collins syndrome: A systematic review

Int J Pediatr Otorhinolaryngol. 2020 Jul:134:110062. doi: 10.1016/j.ijporl.2020.110062. Epub 2020 Apr 21.


Objectives: Treacher Collins syndrome (TCS) is a severe congenital mandibulofacial dysostosis that occurs one in every 50,000 births. The main clinical treatment of this rare disorder is reconstruction surgery. However, the high invasion, low security and long period of surgical intervention make it essential to explore prevention methods to decrease morbidity. The authors' aim is to summarize the prevention methods based on known mechanisms of TCS.

Methods: A systematic review was conducted through an electronic search of PubMed, EMBASE and Web of Science databases through November 2019 using the following items: 'Treacher Collins syndrome OR TCS OR Franceschetti-Zwahlein-Klein syndrome OR Berry syndrome', 'gene therapy OR prevention'. Four causative gene names were also used. Articles which published in English language and explored the prevention methods for TCS were included and data concerning animal model, intervention, phenotype, conclusion were gathered.

Results: Sixty-five studies were reviewed in total, and seven articles were included in this systematic review. Four articles used prevention methods related to the inhibition of p53, and three related to preclusion of oxidative stress-induced DNA damage.

Conclusions: This article provides a comprehensive review of the prevention methods for craniofacial abnormalities characteristic of TCS based on known pathogenesis in the current literatures. The craniofacial phenotype could be rescued through several treatment methods experimentally such as p53 inhibition and antioxidant administration.

Keywords: Oxidative stress; Prevention; Systematic review; Treacher collins syndrome; p53.

Publication types

  • Systematic Review

MeSH terms

  • Animals
  • Antioxidants / therapeutic use*
  • DNA Damage
  • Humans
  • Mandibulofacial Dysostosis / genetics*
  • Mandibulofacial Dysostosis / prevention & control*
  • Oxidative Stress / genetics
  • Phenotype
  • Tumor Suppressor Protein p53 / antagonists & inhibitors
  • Tumor Suppressor Protein p53 / genetics*


  • Antioxidants
  • Tumor Suppressor Protein p53