choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome
Findings
No curated finding names choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0012064), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
25 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Short palpebral fissureHPOHP:0012745
- 14 of 14 reported patients
- Very frequent (80% to 99% of cases)
- Prominent nasal bridgeHPOHP:0000426
- 13 of 14 reported patients
- Frequent (30% to 79% of cases)
- HypertelorismHPOHP:0000316
- 12 of 14 reported patients
- Very frequent (80% to 99% of cases)
- Lower eyelid colobomaHPOHP:0000652
- 12 of 14 reported patients
- Short philtrumHPOHP:0000322
- 12 of 14 reported patients
Genes
2 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- TXNL4AHGNC:30551
- Definitive · ClinGen · Autosomal recessive · 2024
- Definitive · G2P · Autosomal recessive · 2023
- Strong · Ambry Genetics · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2022
- POLR1AHGNC:17264
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
2 names
Resolves to: choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome
- Also called
- Burn-McKeown syndromeoculootofacial dysplasia