Diagnosis and treatment of Treacher Collins syndrome: Report of a rare case with literature review

Abstract

Treacher Collins syndrome is a rare genetic disorder that affects one in 50,000 live births with no gender predilection. It occurs due to defect in the development of structures derived from the first and second branchial arches, grooves, and pouches. Mutation of the TCOF1, POLR1C, and POLR1D genes that code for “Treacle” protein causes an abnormal apoptosis of neural crest cells that leads to the development of the classic features. A typical “bird-face” appearance is seen due to hypoplasia of the malar region, zygoma, and mandible. An abnormally large mouth gives a “fish-mouth” appearance. Other features such as antimongoloid slant of the palpebral fissures, coloboma of lower eyelids, and tongue-shaped hair process at the preauricular region help to confirm the diagnosis. Early diagnosis and prompt treatment helps to lessen the physical and psychological burden associated with the syndrome and helps in utilizing the normal skeletal growth pattern to achieve an optimal quality of life for the affected individual.