Treacher Collins Syndrome – also known as Franceschetti syndrome and mandibulofacial dysostosis is a rare congenital disorder characterized by craniofacial deformities such as absent cheekbones. The physical characteristics include downward slanting eyes, sunken cheeks, very small or nearly absent jaws (micrognathia), hearing loss, drooping lower eyelids, orbital abnormalities, and highly malformed or absent ears.
Treacher Collins occurs in about 1-out-of-50,000 births. It is passed down through families (genetic or hereditary) and there is a high incidence of this occurring in babies whose parents already have the syndrome. The amount of deformity may vary from person to person and some may have very mild expressions of the problem, while others may have a quite severe deformity.
Some patients with Treacher Collins will require a tracheostomy at birth, which may be later removed after appropriate treatment. Surgical correction for Treacher Collins usually occurs in the following stages: