Background: Urinary system malformation is an uncommon extra-craniofacial anomaly in a patient with Treacher Collins
syndrome [TCS]; notwithstanding, a systematic review of this manifestation is needed.
Objective: Our aim was to systematically review the prevalence and type of urinary malformations in patients with TCS.
Materials and Methods: A systematic literature search was conducted of PubMed Google Scholar, Cochrane central data
bases, and OMIM, using the medical subject heading “Treacher Collins syndrome” for articles published between 1996 and
March 2018.
Results: In the 15 studies identified, there were 159 patients with clinical diagnoses of TCS; 144 (91%) of whom had been
documented gene mutations [TCOF1 (114 patients), POLR1C (3 patients), or POLR1D (27 patients) genes]. Of the 144, three (2%) patients had urinary system malformations. All 3 patients with urinary system malformations had only the TCOF1 gene mutation. The types of urinary system malformations were urinary system malformations with unspecified types (2 cases) and urinary tract dysfunction (1 case).
Conclusion: Urinary system malformation is an uncommon clinical presentation in a patient with TCS but this type of
malformation should be considered and managed along with other craniofacial treatments.

Keywords: Treacher Collins syndrome, Treacher Collins-Franceschetti syndrome, Urinary system, Malformations, Frequency, Type, TCOF1, POLR1C, POLR1D, Gene