Burn-McKeown syndrome

Burn-McKeown syndrome (BMKS) is an extremely rare genetic disorder characterized by a distinctive combination of craniofacial abnormalities and other congenital anomalies. The condition was first described by Burn and McKeown in 1992. Key clinical features include choanal atresia (blockage of the nasal passages), prominent ears, thin lips, a short philtrum (the groove between the nose and upper lip), lower eyelid coloboma or other eyelid anomalies, and a characteristic facial appearance. Congenital heart defects, particularly septal defects, have also been reported in affected individuals. Hearing loss, both conductive and sensorineural, may occur. Some patients may also present with cleft palate and dental anomalies. The syndrome primarily affects the craniofacial structures, the cardiovascular system, and the auditory system. Choanal atresia, when bilateral, can cause significant breathing difficulties in newborns and may require urgent surgical intervention shortly after birth. The severity of symptoms can vary among affected individuals, even within the same family. Intellectual development is generally reported as normal in most cases. Burn-McKeown syndrome is caused by mutations in the TXNL4A gene, which encodes a protein involved in pre-mRNA splicing. Treatment is symptomatic and supportive, focusing on surgical correction of choanal atresia, management of cardiac defects, hearing aids or other interventions for hearing loss, and reconstructive surgery for eyelid or facial anomalies. A multidisciplinary approach involving otolaryngologists, cardiologists, audiologists, ophthalmologists, and clinical geneticists is recommended for optimal management.

Common questions about Burn-McKeown syndrome