mandibulofacial dysostosis

genetic disorder

Also known as: Franschetti-Klein syndrome, Treacher Collins syndrome

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Also called:: Treacher Collins Syndrome, or Francheschetti-klein Syndrome

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mandibulofacial dysostosis, a rare, genetic disorder, inherited as an autosomal-dominant trait and characterized by some or all of the following: underdevelopment of the cheek and jaw bones, widely separated eyes, malformation of the lower eyelid and lack of eyelashes, malformation of the ear auricle, lack of an external ear canal with resultant conductive deafness, and other, less common abnormalities. Respiratory problems may be present in the newborn. Intelligence is normal. Treatment includes correction of the deafness by use of a hearing aid or by surgical construction of an ear canal and, sometimes, plastic surgery to enlarge the jaw.