Treacher Collins Syndrome (TCS)

What is Treacher Collins Syndrome?

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.

Causes of Treacher Collins Syndrome

Treacher Collins occurs in about 1 out of 50,000 births.  It is passed down through families (hereditary) and there is high incidence of this occurring in babies whose parents have the syndrome.

The amount of the deformity may vary from person to person with this disorder and some may have very mild expressions of this problem while others may have quite severe deformity.

Treatment and surgery.

Some patients with Treacher Collins syndrome 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 with using distraction osteogenesis and/or reconstruction of the lower jaw at a young age to improve the airway and fit of the teeth
  • Eye lid and ear reconstruction occurs around 6-7 years of age
    Often hearing loss is part of TC syndrome and bone conduction hearing aids are required – usually placed by an ENT surgeon with experience in this type of device
  • Corrective jaw surgery usually with distraction osteogenesis and Le Fort II osteotomy is necessary