29 - Treacher Collins syndrome

Abstract

Treacher Collins syndrome (TCS) is an autosomal dominantly inherited, rare congenital disorder, characterized by hypoplasia of the malar bones and mandible, hearing loss, microtia, and eyelid anomalies. The phenotype varies from very mild to very severe. Emergency treatment can be required for severe breathing issues, directly or shortly after birth, and even necessitate a tracheostomy. Incomplete eyelid closure can cause corneal damage and needs immediate attention. Repair of an associated cleft palate can cause respiratory insufficiency, and should only be undertaken if an overnight sleep study with a palatal plate in place is uneventful. Severe breathing difficulties are related to eating and swallowing problems and need specific attention. Other significant functional disorders are epiphora, incomplete eyelid closure, speech disorders, reduced nasal patency, and smelling. Treatment of patients with TCS requires the coordinated care of several expert care providers. In the first months of life, focus is directed at breathing, feeding and swallowing, ensuring adequate eyelid closure, and screening for hearing loss. During the following early years of life, bone-anchored hearings aid placement is considered as well as periorbital reconstruction, while ensuring adequate growth of height and weight for age. Treatment of obstructed breathing, with the goal to decannulate a patient or to cease other respiratory support, through mandibular distraction osteogenesis is successful in only half of the cases. Depending on the wishes of the patient and parents, autologous or implant-based reconstruction of the external ears is offered. When skeletal maturity is reached, definitive orthognathic surgery combined with orthodontic treatment can be undertaken, followed by nasal septum surgery to improve patency. Throughout the treatment pathway, psychological support should be made available to the parents and patient.