Skip to Content

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

Disclaimer: This site is designed to offer information for general educational purposes only. The health information furnished on this site and the interactive responses are not intended to be professional advice and are not intended to replace personal consultation with a qualified physician, pharmacist, or other healthcare professional. You must always seek the advice of a professional for questions related to a disease, disease symptoms, and appropriate therapeutic treatments.
© Copyright 2017 Wolters Kluwer. All Rights Reserved. Review Date: Sep 19, 2016.
Hide