ABSTRACT 

Treacher Collins syndrome (TCS) is a rare genetic disorder caused by mutations in TCOF1, POLR1C, POLR1D or POLR1B, which trigger neural crest cell apoptosis and bilateral craniofacial malformations of the branchial arches. Key clinical manifestations include malar and mandibular hypoplasia, microtia, hearing impairment, and severe dental anomalies such as tooth agenesis, malocclusions, and elevated caries risk. The resulting anatomical narrowing frequently causes severe upper airway obstruction and complicates anesthetic airway management. Optimal outcomes rely on an early, coordinated multidisciplinary approach—integrating vital airway interventions, staged reconstructive surgeries, mandibular distraction osteogenesis, and proactive pediatric dental care to restore function, aesthetics, and long-term quality of life.

KEYWORDS

Mandibulofacial Dysostosis; Treacher Collins Syndrome; Multidisciplinary Care.

REFERENCES

1) Guo P, Pan B, Jiang H, Yang Q, He L, Lin L. Prevention methods for Treacher Collins syndrome: A systematic review. International Journal of Paediatric Otorhinolaryngology. 2020 Jul;134:110062. doi:10.1016/j.ijporl.2020.110062
2) Ulhaq ZS, Nurputra DK, Soraya GV, Kurniawati S, Istifiani LA, Pamungkas SA, et al. A systematic review on Treacher Collins syndrome: between molecular geneticand clinical severity. . Clinical Genetics. February 2023;103(2):146–55. doi:10.1111/cge.14243
3) Aljerian A, Gilardino MS. Treacher Collins Syndrome. Clinics in Plastic Surgery. April 2019;46(2):197–205. doi:10.1016/j.cps.2018.11.005
4) Marszałek-Kruk BA, Wójcicki P, Dowgierd K, Śmigiel R. Treacher Collins syndrome: genetics, clinical features and management. Genes. 2021 Sep 9;12(9):1392. doi:10.3390/genes12091392
5) Khatiwada A, Thapa B, Pandit R, Bhandari D, Kc S. Imaging of Treacher Collins syndrome: A case report. Radiology Case Reports. 2025 Jan;20(1):593–6. doi:10.1016/j.radcr.2024.10.042
6) C D, Cardoso I L. Treacher Collins syndrome and its implications for the oral cavity. Clin Res Trial. 2019;5(5). doi:10.15761/CRT.1000278
7) Dixon J, Jones NC, Sandell LL, Jayasinghe SM, Crane J, Rey JP, et al. Tcof1- /is required for neural crest cell formation; deficiencies in proliferation lead to craniofacial abnormalities. Proc Natl Acad Sci USA. 5 September
8) School of Dentistry/ University of Sulaimani, Sulaimanya, 053 Iraq, Gataa I. Oral and Dental Malformations Associated with Treacher Collins Syndrome. jmscr. 2015 Oct 5. doi:10.18535/jmscr/v3i10.02
9) Nassar JY, Kefi F, Alhartani MM, Sultan AA, Al-Khatib T, Safdar OY. Treacher Collins syndrome: A comprehensive review on clinical features, diagnosis, and management. Journal of Family Medicine and Primary Care. 2024 Oct;13(10):4165–72. doi:10.4103/jfmpc.jfmpc_851_24
10) Bartzela TN, Carels C, Maltha JC. Update on 13 syndromes affecting craniofacial and dental structures. Front Physiol. 2017 Dec14;8:1038. doi:10.3389/fphys.2017.01038
11) Pan Z, Xu H, Chen B, Tian Y, Zhang L, Zhang S, et al. Treacher Collins syndrome: : A and retrospective analysis of Chinese patients. . Molec Gen & Gen Med. 2021 Feb;9(2):e1573. . doi:10.1002/mgg3.1573
12) Camarillo-Benitez S, Mendez-Catala CF, Chima-Galan MDC, Rivera-Yañez CR, Negrete-Torres N, Arrieta TA, et al. Genetic and Molecular Characterisation of Treacher Collins Syndrome in Three Mexican Families. IJMS. February 16;27(4):1891. doi:10.3390/ijms27041891
13) Singh G, Verma S, Tandon P, Mehrotra D. Increased frontonasal angle and surface area of the mandibular antegonial ; reliable signs of Treacher Collins syndrome. J Cleft Lip Palate Craniofac Anomal. 2014;1(1):65. doi:10.4103/2348-2125.126579
14) Takegoshi H, Kaga K, Kikuchi S, Ito K. Mandibulofacial dysostosis: CT evaluation of the temporal bones for surgical risk assessment in patients with bilateral aural atresia. International Journal of Paediatric Otorhinolaryngology. August 2000;54(1):33–40. doi:10.1016/S0165-5876(00)00344-X
15) Lamzouri A, El Rherbi A, Ratbi I, Laarabi F, Chahboune R, Elalaoui S, et al. Misdiagnosis of Tracher-Collins syndrome initially attributed to drug teratogenicity: a Moroccan case report. Balkan Journal of Medical Genetics. 1 December
16) Kadakia S, Helman SN, Badhey AK, Saman M, Ducic Y. Treacher Collins Syndrome: genetics of a craniofacial disorder. International Journal of Paediatric Otorhinolaryngology. June 2014;78(6):893–8. doi:10.1016/j.ijporl.2014.03.006
17) Campos PSSL, Taitson PF, Pinto Da Silva LC, Leão LL. Dental and health aspects in the co-occurrence of Treacher Collins and Down syndromes: A case report. Special Care in Dentistry. January 2023;43(1):94–8. doi:10.1111/scd.12735
18) Damlar İ, Altan A, Turgay B, Kiliç S. Management of obstructive sleep apnoea in a patient with Treacher Collins syndrome using mandibular distraction osteogenesis. J Korean Assoc Oral Maxillofac Surg. 2016;42(6):388. doi:10.5125/jkaoms.2016.42.6.388
19) Mohan S, Del Rosario TJ, Pruett BE, Heard JA. Anaesthetic management of Treacher Collins syndrome in an outpatient surgical centre. Am J Case Rep. 28 July 2021;22. doi:10.12659/AJCR.931974
20) Rein LE, McQuitty A, Nguyen T. Multidisciplinary airway management and postoperative planning in a paediatric patient with unrepaired Treacher-Collins syndrome: a case report. Cureus. 10 July 2025. doi:10.7759/cureus.87655
21) Pierse J, McSwiney T. Treacher Collins syndrome: , , clinical features and multidisciplinary management. . 2 February
22) Soğukpinar A, Erkmen Almaz M. Dental treatment of a patient with Treacher Collins syndrome under general anaesthesia: A case report. Cumhuriyet Dental Journal. 13 March 2019;22(1):136–9. doi:10.7126/cumudj.475374
23) Kolsi N, Boudaya F, Ben Thabet A, Charfi M, Regaieg C, Bouraoui A, et al. Treacher Collins syndrome: A case report and review of the literature. . Clinical Case Reports. December 2022;10(12):e6782. . doi:10.1002/ccr3.6782
24) Fraszczyk-Tousty M, Jankowska A, Tousty J, Tousty P, Łoniewska B. Treacher Collins syndrome – a case report. Case Reports in Perinatal Medicine. 27 January 2023;12(1):20200009. doi:10.1515/crpm-2020-0009
25) Mohan RPS, Verma S, Agarwal N, Singh U. Treacher Collins syndrome: a case report. BMJ Case Reports. 24 May 2013;2013:bcr2013009341. doi:10.1136/bcr-2013-009341
26) Martelli-Junior H, Coletta RD, Miranda RT, de Barros LM, Swerts MS, Bonan PR. Orofacial features of Treacher Collins syndrome. . Med Oral Patol Oral Cir Bucal. 2009.

Cite this article

AYDIN, G., YAZMACI, B., & DOĞAN, M. S. (2026). Mandibulofacial Dysostosis (Treacher Collins Syndrome): Aetiopathogenesis, Clinical Features and Multidisciplinary Management. INTERNATIONAL JOURNAL OF HEALTH & MEDICAL RESEARCH, 5(9), 877-880. https://doi.org/10.58806/ijhmr.2026.v5i9n02