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Treacher Collins syndrome

Other Names for this Disease
  • Mandibulofacial dysostosis
  • MFD1
  • TCOF
  • TCS
  • Treacher Collins-Franceschetti syndrome
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What are the signs and symptoms of Treacher Collins syndrome?

The signs and symptoms of Treacher Collins syndrome 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). Some people with this condition are also born with an opening in the roof of the mouth called a cleft palate. In severe cases, underdevelopment of the facial bones may restrict an affected infant's airway, causing potentially life-threatening respiratory problems.[1]

People with Treacher Collins syndrome often have eyes that slant downward, sparse eyelashes, and a notch in the lower eyelids called a coloboma. Some affected individuals have additional eye abnormalities that can lead to vision loss. This condition is also characterized by absent, small, or unusually formed ears. Defects in the middle ear (which contains three small bones that transmit sound) cause hearing loss in about half of cases. People with Treacher Collins syndrome usually have normal intelligence.[1] 

You can read additional information regarding the features of Treacher Collins syndrome through MedlinePlus and GeneReviews.

Last updated: 2/28/2011

  1. Treacher Collins syndrome. Genetics Home Reference (GHR). 2006; Accessed 2/28/2011.