The Syndromes of Treacher Collins and Nager

Abstract

Treacher Collins (TCS) and Nager acrofacial dysostosis (NAFD) are complex disorders affecting the craniofacial region. Both are forms of mandibulofacial dysostosis, yet they are clearly distinct from one another. This review article provides an overview of TCS and NAFD, focusing on the structural anomalies that have a significant effect on function that are most relevant to speech-language pathologists. Guidelines for management are also provided. Although they are distinct disorders, they share several similar craniofacial features that have a significant impact on feeding and communication. Feeding and airway function are often compromised because of the oral and pharyngeal anomalies. Articulation errors can be attributable to dental occlusal defects resulting from deformities of the mandible and maxilla. Palatal anomalies may contribute to hypernasality; however, resonance deviations are complex, with both palatal anomalies and pharyngeal crowding contributing to the abnormalities of speech. External and middle ear deformities inevitably cause conductive hearing losses requiring amplification. Given the wide range of functional impairment of TCS and NAFD, coordinated management by a team of professionals from different specialties is essential.

Keywords:

• Treacher Collins syndrome
• Nager syndrome
• craniofacial syndromes
• mandibular distraction osteogenesis
• speech disorders