Treacher Collins syndrome: current evaluation, treatment, and future directions

Treacher Collins syndrome (TCS) is an inherited disorder in which there are general bilateral symmetric anomalies of the structures within the first and second branchial arches. In general, there is complete penetrance and variable expressivity of the trait. The craniofacial rehabilitation of a child with TCS is tailored to the extent of the deformities involved: the orbitozygomatic region, the maxillomandibular region, the nose, facial soft tissues, and external and middle ear structures.

This article reviews the range of clinical features and specific dysmorphology observed in TCS. Functional and aesthetic objectives are discussed, and a comprehensive staged reconstructive approach is outlined, which may be used as a roadmap for treatment planning.