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
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.