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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
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Treacher Collins syndrome is a condition that affects the development of bones and other tissues in the face. The signs and symptoms of this disorder vary greatly, ranging from almost unnoticeable to severe. Most affected individuals have underdeveloped facial bones, particularly the cheek bones, and a very small jaw and chin (micrognathia). Mutations in the TCOF1 gene cause Treacher Collins syndrome. This condition has an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the disorder. About 60 percent of cases result from new mutations in the TCOF1 gene.[1]
Last updated: 2/28/2011

References

  1. Treacher Collins syndrome. Genetics Home Reference (GHR). 2006; http://ghr.nlm.nih.gov/condition/treacher-collins-syndrome. Accessed 2/28/2011.
Your Questions Answered
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Please contact us with your questions about Treacher Collins syndrome. We will answer your question and update these pages with new resources and information.

Basic Information

  • Genetics Home Reference (GHR) contains information on Treacher Collins syndrome. This website is maintained by the National Library of Medicine.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Treacher Collins syndrome. Click on the link to view a sample search on this topic.
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.