Treacher collins syndrome is characterized by the inappropriate development of bones and face tissues. Most affected individuals have underdeveloped facial bones, particularly the cheek bones, jaw and chin (micrognathia). Some of the affected are also born with an opening in the roof of the mouth called a cleft palate. The disorder can be severe, as it can sometimes restrict an affected infant's airway to cause life-threatening respiratory problems.
People inherit Treacher Collins syndrome because of the mutations in the TCOF1 or POLR1D gene, it is considered an autosomal dominant condition.
Those with Treacher Collins syndrome have eyes that slant downward, sparse eyelashes, and a notch in the lower eyelids called an eyelid coloboma. Eye abnormalities that can lead to vision loss are also associated with the disorder. Unusually formed ears, small and sometimes absent ears is another characteristic of the disorder. Some individuals have defects in the middle ear and may suffer from hearing problem (including hearing loss).
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