Treacher Collins syndrome: present concepts of the disorder and their surgical correction.

Abstract

Treacher Collins Syndrome is a rare bilateral congenital deformity occurring in 1 in 10,000 births. It is also known, in the European literature, as Franceschetti Syndrome, and is additionally known as mandibulofacial dysostosis. It is a syndrome with a very wide spectrum of manifestations characterized by distortions of the orbit secondary to hypoplasia of the maxilla, mandible, and, most markedly, of the zygoma. Soft tissue deformities include lower lid colobomas, laxity and dystopia of the lateral canthus, microtia, and a paucity of the muscular aponeurosis of the midface. The syndrome is frequently accompanied by significant hearing loss, early failure to thrive, chronic respiratory insufficiency, and sleep apnea. Intelligence is usually within normal limits although learning disabilities are common in early life. These major anatomical and physiological abnormalities, as well as the psychological and social stigma associated with severe facial deformity, make this syndrome one of the most challenging reconstructive problems presented to the craniofacial surgeon.