has material basis in germline mutation in TXNL4A hereditary disease choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome https://rarediseases.info.nih.gov/diseases/10041/choanal-atresia-hearing-loss-cardiac-defects-craniofacial-dysmorphism-syndrome https://www.malacards.org/card/burn_mckeown_syndrome oculootofacial dysplasia bilateral choanal atresia, cardiac defects, deafness, and dysmorphic appearance UMLS:C1837822 Burn-McKeown syndrome Orphanet:1200 DOID:0080695 GARD:0010041 MONDO:0012064 MEDGEN:325265 Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, also known as Burn-McKeown syndrome, is an extremely rare multiple congenital anomaly syndrome characterized by bilateral choanal atresia associated with a characteristic cranio-facial dysmorphism (hypertelorism with narrow palpebral fissures, coloboma of inferior eyelid with presence of eyelashes medial to the defect, prominent nasal bridge, thin lips, prominent ears), that can be accompanied by hearing loss, unilateral cleft lip, preauricular tags, cardiac septal defects and anomalies of the kidneys. The features of this syndrome overlaps considerably with those of the CHARGE syndrome. choanal atresia deafness cardiac defects dysmorphism MESH:C563682 OMIM:608572 BMKS multiple congenital anomalies/dysmorphic syndrome without intellectual disability