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.