What Is Treacher Collins Syndrome?

Treacher Collins syndrome, also known as Treacher Collins-Franceschetti syndrome, is a rare genetic disorder characterized by distinctive facial deformities such as underdeveloped or absent cheekbones, slanted eyes with lower eyelid deformities, and a wide mouth. It is caused by mutations in specific genes that are involved in the development of facial structures, leading to a range of symptoms that may vary in severity from mild to severe. Treacher Collins syndrome is not curable, but treatments can help improve facial appearance and function, such as reconstructive surgery, orthodontics, and speech therapy.