Treacher Collins syndrome
Other Names for this Disease
- Franceschetti-Klein syndrome
- Mandibulofacial dysostosis
- Mandibulofacial dysostosis without limb anomalies
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 it is due to the TCOF1 or POLR1D gene, it is inherited in an autosomal dominant manner. About 60% of these cases are due to a new mutation in the gene and are not inherited from a parent. When it is due to the POLR1C gene, 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 in the face. The signs and symptoms of this disorder 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: 10/27/2014
- 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.
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