PRESENTATION OUTLINE
What is Treacher Collins Syndrome?
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. Children that suffer from this very rare syndrome benefit from early intervention speech and language programs.
Why did this happen?
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.
