Treacher Collins Syndrome

Treacher Collins syndrome, also known as mandibulofacial dysostosis, is a rare genetic disorder characterised by craniofacial abnormalities resulting from mutations affecting facial bone development. The condition primarily involves underdevelopment of the cheekbones, jaw, and chin, and is frequently associated with ear and eye anomalies. These structural defects can lead to significant functional challenges, including breathing difficulties, feeding problems, and hearing impairment. Diagnosis is usually based on clinical features and confirmed through genetic testing. Management of Treacher Collins syndrome requires a multidisciplinary approach involving specialists from paediatrics, otolaryngology, maxillofacial surgery, audiology, speech therapy, and nursing care. Treatment is largely supportive and may include surgical correction of facial deformities, the use of hearing aids, and interventions for speech and feeding. With early diagnosis and timely, coordinated care, individuals with Treacher Collins syndrome can achieve favourable functional outcomes and improved quality of life.