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Treacher Collins Syndrome

Abstract

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NORD is very grateful to Joseph Lee, NORD Editorial Intern from the University of Notre Dame, Dr. Paul Trainor, Stowers Institute for Medical Research, Dr. Pedro A. Sanchez-Lara, Children's Hospital Los Angeles, and Dr. Michael Dixon, Univ. of Manchester, UK, for assistance in the preparation of this report.

Synonyms of Treacher Collins Syndrome

  • Franceschetti-Zwalen-Klein syndrome
  • mandibulofacial dysostosis
  • TCS
  • Treacher Collins-Franceschetti syndrome

Disorder Subdivisions

  • No subdivisions found.

General Discussion

Summary
Treacher Collins syndrome (TCS) is a rare genetic disorder characterized by distinctive abnormalities of the head and face area resulting from underdevelopment (hypoplasia) of certain facial structures including the jaw, cheekbones and nearby structures (zygomatic complex). The specific symptoms and physical characteristics associated with TCS can vary greatly from one individual to another. Craniofacial abnormalities tend to involve the cheekbones, jaws, mouth, ears, and/or eyes. In addition to the various facial abnormalities, affected individuals may have malformations of the external ears and middle ear structures and eye (ocular) abnormalities including an abnormal downward slant to the opening between the upper and lower eyelids (palpebral fissures). Affected individuals may develop hearing loss and breathing (respiratory) difficulties. Furthermore, brain and behavioral anomalies such as microcephaly and psychomotor delay have also been occasionally reported as part of the condition. TCS is highly variable. Some individuals may have mild symptoms and go undiagnosed, while others may develop serious, life-threatening respiratory complications. TCS is caused by a mutation in the TCOF1, POLR1C or POLR1D genes. In the case of TCOF1 or POLR1D, the mode of inheritance is autosomal dominant, while in the case of POLR1C it is autosomal recessive.

Introduction
TCS is named after Edward Treacher Collins, a London ophthalmologist who first described the disorder in the medical literature in 1900. TCS is also known as mandibulofacial dysostosis or Treacher Collins-Franceschetti syndrome.

Organizations related to Treacher Collins Syndrome

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