TXNL4A and choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome: Two of these disorders – mandibulofacial dysostosis Guion-Almeida type (MFDGA) and Burn-McKeown syndrome (BMKS) – are caused by variants in U5 snRNP proteins, EFTUD2 and TXNL4A, respectively.