Home > Encyclopedia of Genetic Disorders > Treacher Collins syndrome

Definition

Treacher Collins syndrome (TCS) is a genetic disorder involving abnormal facial development. Individuals with TCS have underdevelopment of the jawbone, cheekbones, ears, and eye area. These features range widely from mild to severe. Intelligence and lifespan are usually normal.

Description

TCS was first described by E. Treacher Collins in 1900 after observation of two individuals with similar facial abnormalities. In 1940, Franceschetti and Klein gave TCS another name, mandibulofacial dysostosis. TCS is also sometimes called Franceschetti-Klein syndrome or Franceschetti syndrome.

The features of TCS result from a problem in early embryonic development. After an embryo forms, there are cells that are unspecialized and have the ability to develop into any type of cell in any...