A member asked:

What is the definition or description of: treacher collins syndrome?

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Treacher collins: Is a congenital disorder characterized by craniofacial deformities, such as absent cheekbones. Treacher collins syndrome is found in about 1 in 50, 000 births. The typical physical features include downward slanting eyes, micrognathia (a small jaw), conductive hearing loss, underdeveloped zygoma, drooping part of the lateral lower eyelids, and malformed or absence of ears.

Answered 6/5/2014

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CF syndrome: Treacher collins (aka mandibular dysostosis) is an autosomal dominant with variable expressivity syndrome. It can affect the bones around the eyes, cheek and lower jaw. Lack of eyelashes, absent parotid glands and malformed ears with hearing loss are also common findings.

Answered 3/18/2013

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