A birth defect characterized by a group of deformities affecting the size and shape of the ears, eyelids, cheekbones, and jaw. Also called Treacher Collins syndrome. Physical features of mandibulofacial dysostosis may include down-slanting eyes; notches in the lower eyelids; a prominent nose; a broad mouth; a small chin with a steeply angled lower jaw; underdeveloped, malformed, or prominent ears; and growth of hair extending in front of the ears. Hearing loss often accompanies the syndrome, and the person may also have problems breathing and eating. Less frequently, physical features include cleft lip or cleft palate, heart defects, and crossed eyes.
A condition marked by hypoplasia of the facial bones, downward sloping of the palpebral tissues, and malformation of the ears. It occurs in two forms thought to be autosomal dominants.