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Treacher Collins syndrome
Other Names for this Disease
- Mandibulofacial dysostosis
- Treacher Collins-Franceschetti syndrome
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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.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 (
Last updated: 2/28/2011
- Treacher Collins syndrome. Genetics Home Reference (GHR). 2006; http://ghr.nlm.nih.gov/condition/treacher-collins-syndrome. Accessed 2/28/2011.
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- Genetics Home Reference (GHR) contains information on Treacher Collins syndrome. This website is maintained by the National Library of Medicine.
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- The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Treacher Collins syndrome. Click on the link to go to OMIM and review these resources.
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- 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.