Details of Disease | DrugMAP

General Information of Disease (ID: DISI9JIG)

Disease Name	Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome
Synonyms	BMKS; choanal atresia deafness cardiac defects dysmorphism; bilateral choanal atresia, cardiac defects, deafness, and dysmorphic appearance; oculootofacial dysplasia; Burn-McKeown syndrome
Definition	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.
Disease Hierarchy	DISYKSRF: Genetic disease DISD0WVL: Multiple congenital anomalies/dysmorphic syndrome without intellectual disability DISI9JIG: Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome
Disease Identifiers	MONDO ID MONDO_0012064 MESH ID C537411 UMLS CUI C1837822 OMIM ID 608572 MedGen ID 325265 Orphanet ID 1200 SNOMED CT ID 720640005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TXNL4A	OTGKS24X	Definitive	Autosomal recessive	[1]
POLR1A	OTDWI0TG	Supportive	Autosomal recessive	[2]
EIF4A3	OTYYFE7K	moderate	Biomarker	[3]
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References

1	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
2	Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A Dysfunction. Am J Hum Genet. 2015 May 7;96(5):765-74. doi: 10.1016/j.ajhg.2015.03.011. Epub 2015 Apr 23.
3	A review of craniofacial disorders caused by spliceosomal defects.Clin Genet. 2015 Nov;88(5):405-15. doi: 10.1111/cge.12596. Epub 2015 May 1.