Treacher Collins syndrome
Other Names for this Disease
- Treacher Collins-Franceschetti syndrome
- Mandibulofacial dysostosis
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micrognathia). Other features may include cleft palate, eye abnormalities, and hearing loss. TCS may be caused by mutations in the TCOF1, POLR1C, or POLR1D genes. When the TCOF1 or POLR1D gene is responsible, it is inherited in an autosomal dominant manner. However, about 60% of autosomal dominant cases are due to a new mutation in the gene and are not inherited from a parent. When the POLR1C gene is responsible, it is inherited in an autosomal recessive manner. In some cases, the genetic cause of the condition is unknown.Treacher Collins syndrome (TCS) is a condition that affects the development of bones and other tissues of the face. The signs and symptoms vary greatly, ranging from almost unnoticeable to severe. Most affected people have underdeveloped facial bones, particularly the cheek bones, and a very small jaw and chin (
Last updated: 11/11/2015
- Treacher Collins syndrome. Genetics Home Reference. June, 2012; http://ghr.nlm.nih.gov/condition/treacher-collins-syndrome. Accessed 10/27/2014.
- Marie-Paule Vazquez. Treacher Collins syndrome. Orphanet. January, 2014; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=861. Accessed 10/27/2014.
- 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 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.
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- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a 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.