MANDIBULOFACIAL DYSOSTOSIS

Course overview

TREACHER COLLINS SYNDROME IS A CONGENITAL DISORDER OF CRANIOFACIAL DEVELOPMENT THAT HAS VARIABLE PHENOTYPIC EXPRESSION. IT CAN BE INHERITED IN AN AUTOSOMAL DOMINANT PATTERN (LESS THAN 50% OF CASES) OR CAN BE A SPORADIC MUTATION. THE HALLMARKS OF THIS DISEASE ARE DOWNWARD-SLANTING PALPEBRAL FISSURES, MANDIBULAR HYPOPLASIA, MALAR HYPOPLASIA, COLOBOMA OF THE LOWER EYELIDS, MALFORMATION OF THE AURICULAR PINNA, MIDDLE EAR DEFORMITIES, AND ASSOCIATED CONDUCTIVE HEARING LOSS. THIS ACTIVITY REVIEWS THE EVALUATION AND TREATMENT OF PATIENTS WITH TREACHER COLLINS SYNDROME AND HIGHLIGHTS THE ROLE OF THE INTERPROFESSIONAL TEAM IN MANAGING PATIENTS WITH THIS CONDITION.