Treacher Collins Syndrome: A case report and literature review


Article PDF :

Veiw Full Text PDF

Article type :

Case Report

Author :

Ankita ,, Vinay Mohan, Anuj Gaur, Niharika Kumari, Sameeksha Bhardwaj, Shivani Singh

Volume :

39

Issue :

3

Abstract :

Treacher Collins Syndrome (TCS) is a rare congenital craniofacial disorder primarily affecting the development of facial bones and tissues. It presents with characteristic features such as downward-slanting palpebral fissures, hypoplasia of the zygomatic complex and mandible, ear deformities, and conductive hearing loss. Despite its distinct facial appearance, TCS does not affect intelligence, highlighting the importance of looking beyond facial differences. This case report presents a rare instance of TCS in a young individual, detailing the clinical presentation, radiographic findings, multidisciplinary management, and psychosocial considerations. Emphasis is placed on the need for early diagnosis, genetic counseling, and long-term rehabilitative care to improve function and quality of life. The report also underscores the social and emotional challenges faced by individuals with TCS, reinforcing that they are more than a face; individuals with potential, resilience, and the right to dignity and inclusion.

Keyword :

Treacher collins syndrome, Craniofacial dysostosis, Mandibulofacial dysostosis, Congenital anomaly, Case report, Psychosocial impact.