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mandibulofacial dysostosis


Definition: a variable syndrome of malformations primarily of derivatives of the first pharyngeal arch; characterized by palpebral fissures sloping outward and downward with notches or colobomas in the outer third of the lower lids, bony defects or hypoplasia of malar and zygomatic bones, hypoplasia of the mandible, macrostomia with high or cleft palate and malposition and malocclusion of teeth, low-set malformed external ears, atypical hair growth, and occasional pits or clefts between mouth and ear.

Synonym(s): mandibulofacial dysotosis syndrome, mandibulofacial dysplasia

See Also: Treacher Collins syndrome

Further information

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© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review date: Sep 19, 2016.