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Treacher Collins Syndrome

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by

Matthew Mitchell

on 17 May 2016

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Transcript of Treacher Collins Syndrome

What is the Life expectancy for someone with Treacher Collins Syndrome?
The life expectancy of a child born with Treacher Collins syndrome is the same as a baby born without this disability. If a child is born with respiratory problems and malformed jaw the baby may die.


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What Causes Treacher Collins Syndrome?
The cause of Treacher Collins syndrome is a mutation in the genetics of the baby that affects the baby's facial development before birth. The gene that is affected is called TCOF1 and is found on chromosome 5. The mutated gene produces abnormalities in a protein called treacle.
Treacher Collins Syndrome
Why was Auggie's face so unusual and severe?
We believe August Pullman's case of Treacher Collins Syndrome is so unusual because he had al the ymptoms of the syndrome, which is highly unusual. It was so severe, because both his parents had the gene, rather one.
Other Interesting Facts
Treacher Collins Syndrome is a rare craniofacial condition that affects the formation of the lower jaw bone, causes eyelid coloboma, which is a notch missing from the lower eyelid, causes a small ear, tags, and little pits near the ear.
Is there a treatment for Treacher Collins Syndrome
Technically speaking, there is no full cure for Treacher Collins Syndrome, but there are cures for most of the symptoms of the syndrome.
By Matthew Mitchell and Kelsey Baker
What is Treacher Collins Syndrome?
Mandibulofacial Dysostosis refers to the symptoms of the syndrome, with Mandibulo refering to the lower jaw, facial to the face, and dysostosis refering to certain bones being formed abnormally.
Some people don't even know that they have mandibulofacial Dystosis unless they have a child with it.
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