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This article provides an overview of Treacher Collins syndrome (TCS), its diagnostic features, aetiology and management. TCS is a genetic disorder that results in congenital craniofacial malformation. The facial, dental manifestations and orthodontic implications of TCS are outlined. General dental practitioners (GDPs) and orthodontists play a critical role in the multidisciplinary care of these patients.
CPD/Clinical Relevance: Clinicians should be aware of the challenges in treating this cohort of patients.
Article
Treacher Collins syndrome (TCS), also known as mandibulofacial dysostosis, is a congenital condition that affects the structures derived from the first and second pharyngeal arch. TCS may occur as a result of sporadic mutation or familial inheritance. In familial cases of TCS, autosomal dominant inheritance is most common. The incidence of TCS is one in 50,000 live births.1
The clinical presentation of TCS varies among affected individuals, ranging from mild to severe facial involvement, and in severe cases, life-threatening airway compromise can occur. The phenotypic characteristics of TCS are typically bilateral. TCS is characterized by significant hypoplasia of the midface structures, which leads to shorter lateral and lower orbital walls, resulting in a narrowed and flattened facial bone structure. This often occurs with hypoplasia of the maxilla, and a skeletal Class II relationship with severe hyper-divergence and mandibular retrognathia is often observed.
Additional anomalies may include visual impairment, cleft palate, dental abnormalities leading to anterior open bite, spacing or hypodontia. The facial features of TCS can cause difficulty with speech, breathing, feeding and hearing. Treatment is multidisciplinary in nature and depends on the individual presentation and severity of the syndrome as well as the severity of symptoms.
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