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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Treacher Collins syndrome


Other Names for this Disease

  • Mandibulofacial dysostosis
  • MFD1
  • TCOF
  • TCS
  • Treacher Collins-Franceschetti syndrome
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Cause

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What causes Treacher Collins syndrome?

Treacher Collins syndrome (TCS) is caused by changes (mutations) in any of several genes: TCOF1 (in over 80% of cases), POLR1C, or POLR1D. In a few cases, the genetic cause of the condition is unknown.

These genes appear to play important roles in the early development of bones and other tissues of the face. They are involved in making proteins that help make ribosomal RNA (rRNA). rRNA is a chemical needed to make new proteins that are necessary for normal function and survival of cells. Mutations in these genes can reduce the production of rRNA, which may cause cells involved in the development of facial bones and tissues to die early. This premature cell death may lead to the signs and symptoms of TCS. It is still unclear why the effects of these mutations are generally limited to facial development.[1]
Last updated: 10/27/2014

References
  1. Treacher Collins syndrome. Genetics Home Reference. June, 2012; http://ghr.nlm.nih.gov/condition/treacher-collins-syndrome. Accessed 10/27/2014.


Other Names for this Disease
  • Mandibulofacial dysostosis
  • MFD1
  • TCOF
  • TCS
  • Treacher Collins-Franceschetti syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.