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:
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.