Treacher Collins syndrome, also known as mandibulofacial dysostosis syndrome, is a rare genetic condition that results in craniofacial deformities involving the first and second pharyngeal arches. It is associated with Tessier cleft types 6, 7, and 8.
Clinical Manifestations
Patients with Treacher Collins syndrome typically exhibit a characteristic "bird-like" facial appearance. Common features include downward slanting palpebral fissures, absence of eyelashes on the medial portion of the lower eyelids, underdeveloped or absent zygomatic bones, abnormalities of the external auditory canal with associated hearing loss, a highly arched palate or cleft palate, macrostomia, and underdevelopment of the mandible.
Treatment
The management of Treacher Collins syndrome requires a multidisciplinary approach, involving ophthalmology, otorhinolaryngology, plastic surgery, maxillofacial surgery, head and neck surgery, orthodontics, and psychological counseling. Treatment strategies are tailored to address specific deformities and are implemented in staged surgical procedures according to anatomical regions. Surgical principles prioritize the reconstruction of craniofacial bony defects using autologous bone or cartilage, followed by soft tissue repair.