Authors of section

Authors

Scott Bartlett, Michael Ehrenfeld, Gerson Mast, Adrian Sugar

Executive Editor

Edward Ellis III

General Editor

Daniel Buchbinder

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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