Definition:

Burn-McKeown syndrome (BMKS) is a rare autosomal-recessive malformative craniofacial disorder characterized by choanal atresia, sensorineural deafness, cardiac defects, and typical craniofacial dysmorphisms, consisting of narrow palpebral fissures, coloboma of the lower eyelids, a prominent nose with high nasal bridge, short philtrum, cleft lip and/or palate, and large and protruding ears. All patients have normal intellectual development; Treacher Collins syndrome [DS:H00610] is therefore a possible differential diagnosis. Mutations in TXNL4A, encoding a protein of the major spliceosome, have been identified as the cause of BMKS.