Treacher Collins Syndrome

📋Overview

Treacher Collins syndrome, also known as mandibulofacial dysostosis, occurs due to the abnormal development of the first and second branchial arches during embryonic growth. This process affects the formation of the cheekbones, jaws, and ears, leading to distinctive craniofacial features that vary in severity among affected individuals.

The condition primarily impacts the structural symmetry and development of the face, which can result in clinical observations such as underdeveloped facial bones and potential hearing loss. These physical characteristics are typically present at birth and are the result of specific genetic changes influencing early craniofacial morphogenesis.