Burn-McKeown syndrome
Synonyms: Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
A rare multiple congenital anomaly syndrome characterized by bilateral choanal atresia associated with characteristic cranio-facial dysmorphisms (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. Affected individuals have normal intelligence.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Burn-McKeown syndrome | Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome |
| fr | Syndrome de Burn-McKeown | Syndrome d'atrésie des choanes-surdité-cardiopathie-dysmorphie craniofaciale |
| de | Burn-McKeown-Syndrom | Choanalatresie-Schwerhörigkeit-Herzfehler-kraniofaziale Dysmorphien-Syndrom |
| es | Síndrome de Burn-McKeown | Síndrome de atresia de coanas-hipoacusia-defectos cardíacos-dismorfia craneofacial |
| it | Sindrome di Burn-McKeown | Sindrome atresia delle coane-sordità-cardiopatia-dismorfismi craniofacciali |
| nl | Syndroom van Burn-McKeown | Choane atresie - gehoorverlies - hartdefecten - craniofaciale dysmorfie-syndroom |
| pt | Síndrome Burn-McKeown | Síndrome de atresia da coanas-perda auditiva-anomalias cardíacas-dismorfia |
| pl | Zespół Burna i McKeowna | Zespół Burna i McKeowna |
| cs | Syndrom zahrnující choanální atrézii, ztrátu sluchu, srdeční vady a kraniofaciální dysmorfismus | Burnův-McKeownové syndrom · Burn-McKeownové syndrom |
| uk | Синдром Берна-МакКеона | Синдром атрезії хоан - втрати слуху - вади серця - черепно-лицевого дизморфізму |
| zh | 鼻后孔闭锁-听力丧失-心脏缺陷-颅面畸形综合征 | Burn-McKeown综合征 |
| tr | Koanal atrezi-işitme kaybı-kardiyak defektler-kraniyofasiyal dismorfizm sendromu | Burn-McKeown sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 608572 | E | validated | |
| OMIM | 616462 | BTNT | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0012064 | E | validated | |
| MeSH | C537411 | E | validated | |
| UMLS | C1837822 | E | validated | |
| GARD | 10041 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (5):
- ORPHA:330206Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare genetic diseases - ORPHA:435606Genetic nose and cavum anomaly
rare genetic diseases - ORPHA:102285Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare developmental anomalies during embryogenesis - ORPHA:156246Nose and cavum anomaly
rare developmental anomalies during embryogenesis; rare otorhinolaryngological diseases - ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:77302Oculo-oto-facial dysplasia moved to · inactive
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TXNL4A | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:30551 | ENSG00000141759 | 611595 | 18q23 | thioredoxin like 4A | 25434003[PMID] |
| POLR1A | Disease-causing germline mutation(s) in | Assessed | HGNC:17264 | ENSG00000068654 | 616404 | 2p11.2 | RNA polymerase I subunit A | 25913037[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 20 families | Worldwide | Family(ies) | Validated | 25434003[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25434003[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
11 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0004502 | Bilateral choanal atresia | |
| HP:0000316 | Hypertelorism | |
| HP:0012745 | Short palpebral fissure | |
| Frequent (79-30%) | ||
| HP:0001671 | Abnormal cardiac septum morphology | |
| HP:0000426 | Prominent nasal bridge | |
| Occasional (29-5%) | ||
| HP:0000174 | Abnormal palate morphology | |
| HP:0000478 | Abnormality of the eye | |
| HP:0000504 | Abnormality of vision | |
| HP:0003196 | Short nose | |
| HP:0004322 | Short stature | |
| HP:0000431 | Wide nasal bridge | |
Run the differential on the 3 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1200
- This record as JSON: /data/d/1200.json