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Treacher Collins Syndrome

Posted by Chavonne Jones On October - 17 - 2008 Subscribe here

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Treacher Collins syndrome is a rare genetic disorder that affects the development of bones and tissues in the face. Most affected individuals have underdeveloped facial bones which leads to a sunken appearance in the middle of the face, a prominent nose, and a very small jaw and chin (micrognathia), and possibly cleft palate. The underdevelopment of the facial bones may restrict breathing which can cause potentially life-threatening respiratory problems. Individuals with Treacher Collins syndrome often have downward slanting eyes, sparse eyelashes, and a notch in the lower eyelids called a coloboma. Some affected individuals may have additional eye abnormalities that can lead to vision loss. Affected individuals also have defects in the middle ear causing hearing loss.

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