Clinical Implications of Treacher Collins Syndrome

Abstract

Treacher Collins syndrome (OMIM 154500) is a rare congenital craniofacial condition.1 The incidence of Treacher Collins syndrome is nowadays estimated at 1 in 50,000.2-3 Based on this, every year approximately 4-5 patients are born with this syndrome in the Netherlands. Treacher Collins syndrome has several eponyms, for example it is also known as Franceschetti-Zwahlen-Klein syndrome or Berry syndrome. George Andreas Berry in 1889 first described an abortive form with colobomata of the lower eyelids. In 1900 Treacher Collins presented two similar cases and described their features (Figure 1).4 Forty-four years later in 1944 Franceschetti and Zwahlen and later Franceschetti and Klein published a review with phenotypic features and designated it “mandibulofacial dysostosis”.5 In addition, later on Fazen described in 1967 10 affected persons in four generations.1 Nowadays “Treacher Collins syndrome” (TCS) is the most used eponym for this congenital craniofacial syndrome.