Authors of section


Scott Bartlett, Michael Ehrenfeld, Gerson Mast, Adrian Sugar

Executive Editor

Edward Ellis III

General Editor

Daniel Buchbinder

Open all credits

Treacher Collins Syndrome

Treacher Collins syndrome (TCS) is an autosomal dominant disorder with variable penetrance. The only gene mutations known to be associated with TCS are located in the TCOF 1 gene.

Treacher Collins syndrome is reported in the range of 1:25,000 to 1:50,000 births.

Treacher Collins syndrome is characterized by:

  • Hypoplastic or absent zygoma
  • Facial convexity
  • Mandibular hypoplasia
  • Hypoplastic or absent condyle
  • Retrusive chin with increased vertical height
  • Antimongoloid slant of the palpebral fissures
  • Hypoplastic lower eyelid with coloboma
  • Broadened mid-nasal dorsum
  • Ears can be normal, deformed or absent
  • Bilateral stenosis or atresia of the external auditory canal
  • Clefts of the palate and lateral lip

Given the wide range of possible deformities in this disorder, multiple specialists must be involved in their care. A comprehensive description of the evaluation and management of these patients is beyond the scope of this surgery reference.

Hemifacial microsomia (HFM) - Pruzansky III