What is Treacher Collins Syndrome

By  ,  Onlymyhealth editorial team
Oct 25, 2012

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Quick Bites

  • Treacher Collins Syndrome affects the head and face.
  • Down-slanting eyes and notched lower eyelids are its characteristics.
  • Most children with Treacher Collins have normal development.
  • They benefit from early intervention speech and language programs.

Treacher Collins Syndrome, also called mandibulofacial dysostosis, affects the head and face.

Characteristics include:

  • Down-slanting eyes
  • Notched lower eyelids
  • Underdevelopment or absence of cheekbones and the side wall and floor of the eye socket
  • Lower jaw is often small and slanting
  • Forward fair in the sideburn area
  • Underdeveloped, malformed and/or prominent ears

Most children with Treacher Collins have normal development and intelligence; however, it is important that there be early hearing tests. Most children with Treacher Collins Syndrome benefit from early intervention speech and language programs.

Treacher Collins Syndrome is believed to be caused by a change in the gene on chromosome 5, which affects facial development. About 40 percent of the time, one parent has the Treacher Collins Syndrome gene. Geneticists can now determine whether the Treacher Collins gene is a new mutation or one that has been passed on. There are new studies being done to see about the possibilities of there being other genes that could be involved with this syndrome.

In addition to the physical characteristics common to Treacher Collins syndrome, your child may have some or all of the following problems:

  • Breathing problems and/or eating difficulties
  • Most children have a 40% hearing loss in each ear due to abnormalities of the outer and middle ear, which conduct sound to the nerve endings
  • The eyes have a tendency to dry out, which can lead to infection
  • Cleft palate often occurs with Treacher Collins Syndrome

Read more articles on Treacher Collins Syndrome


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