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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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- 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.
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