Background: Gastrointestinal [GI] malformation is an uncommon extra-craniofacial manifestation in a patient with Treacher Collins syndrome [TCS], however, a systematic review of this presentation is lacking.
Objective: Our aim was to systematically review the prevalence and type of GI malformations in patients with TCS.
Materials and Methods: A systematic literature search was conducted for articles published on “Treacher Collins syndrome”
between 1996 and March 2018 using PubMed, Google scholar, Cochrane central data bases, and OMIM.
Results: Of the 15 studies included, we found 159 patients who had a clinical diagnosis of TCS; 144 (91%) of whom had
documented gene mutations [i.e., TCOF1 (114 patients), POLR1C (3 patients), or POLR1D (27 patients)]. Of the 144
patients who had been documented gene mutations, 2 (1.4%) patients had GI malformations; both of which had only the
TCOF1 gene mutation. The types of GI malformations included chronic intestinal pseudo-obstruction [CIPO] (1 case) and
esophageal regurgitation (1 case).
Conclusion: A GI malformation is an uncommon clinical presentation in a patient with TCS but this type of malformation
should be looked for and managed during a craniofacial care.

Keywords: Treacher Collins syndrome, Treacher Collins-Franceschetti syndrome, Gastrointestinal malformations, Frequency, Type, TCOF1, POLR1C, POLR1D, Gene