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 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:
- Correction of the lower jaw usually occurs first using distraction osteogenesis and/or reconstruction of the lower jaw at a young age to improve the airway and fit of the teeth
- Eyelid and ear reconstruction occurs around 6-7 years of age. Often hearing loss is part of the syndrome and bone conduction hearing aids are required
- Corrective jaw surgery usually with distraction osteogenesis and Le Fort II osteotomy is necessary