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Rare Diseases Blog

By Mary Kugler, R.N., About.com Guide to Rare Diseases since 2000

Treacher Collins Syndrome

Sunday April 20, 2008
Treacher Collins syndrome is a genetic disorder of chromosome 5 that causes birth defects of the head and face. Mutations in the TCOF1 gene cause the syndrome. A few years ago I provided nursing care for a little girl with Treacher Collins syndrome whose mouth and jaw defects were severe enough to cause problems with her breathing.

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