Choanal atresia - deafness - cardiac defects - dysmorphism
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Burn-McKeown syndrome |
| Number of Symptoms | 39 |
| OrphanetNr: | 1200 |
| OMIM Id: |
608572
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| ICD-10: |
Q87.8 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | 5 cases [Orphanet] |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Neonatal [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
-Rare genetic disease Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit -Rare developmental defect during embryogenesis Nose and cavum anomaly -Rare developmental defect during embryogenesis -Rare genetic disease -Rare otorhinolaryngologic disease Syndromic genetic deafness -Rare developmental defect during embryogenesis -Rare genetic disease -Rare otorhinolaryngologic disease |
Symptom Information:
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(HPO:0011968) | Feeding difficulties | 240 / 7739 | ||||
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(HPO:0008872) | Feeding difficulties in infancy | 153 / 7739 | ||||
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(HPO:0000316) | Hypertelorism | Very frequent [Orphanet] | 644 / 7739 | |||
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(HPO:0000652) | Lower eyelid coloboma | 9 / 7739 | ||||
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(HPO:0004322) | Short stature | Occasional [Orphanet] | 1232 / 7739 | |||
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(HPO:0001631) | Atria septal defect | 274 / 7739 | ||||
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(HPO:0001629) | Ventricular septal defect | 316 / 7739 | ||||
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(HPO:0004760) | Congenital septal defect | Frequent [Orphanet] | 69 / 7739 | |||
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(HPO:0000338) | Hypomimic face | 8 / 7739 | ||||
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(HPO:0001939) | Abnormality of metabolism/homeostasis | 328 / 7739 | ||||
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(HPO:0004691) | 2-3 toe syndactyly | 50 / 7739 | ||||
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(HPO:0000347) | Micrognathia | 426 / 7739 | ||||
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(HPO:0000303) | Mandibular prognathia | 179 / 7739 | ||||
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(HPO:0000478) | Abnormality of the eye | Occasional [Orphanet] | 126 / 7739 | |||
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(HPO:0000193) | Bifid uvula | 66 / 7739 | ||||
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(HPO:0000175) | Cleft palate | 349 / 7739 | ||||
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(HPO:0002705) | High, narrow palate | Occasional [Orphanet] | 308 / 7739 | |||
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(HPO:0000204) | Cleft upper lip | 193 / 7739 | ||||
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(HPO:0000160) | Narrow mouth | 188 / 7739 | ||||
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(HPO:0000322) | Short philtrum | 130 / 7739 | ||||
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(HPO:0000233) | Thin vermilion border | 124 / 7739 | ||||
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(HPO:0005105) | Abnormal nasal morphology | Frequent [Orphanet] | 114 / 7739 | |||
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(HPO:0200138) | Bilateral choanal atresia/stenosis | 1 / 7739 | ||||
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(HPO:0000453) | Choanal atresia | Very frequent [Orphanet] | 76 / 7739 | |||
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(HPO:0000426) | Prominent nasal bridge | Frequent [Orphanet] | 121 / 7739 | |||
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(HPO:0003196) | Short nose | Occasional [Orphanet] | 264 / 7739 | |||
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(HPO:0000430) | Underdeveloped nasal alae | 90 / 7739 | ||||
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(HPO:0000445) | Wide nose | Occasional [Orphanet] | 190 / 7739 | |||
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(HPO:0000581) | Blepharophimosis | Very frequent [Orphanet] | 197 / 7739 | |||
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(HPO:0000405) | Conductive hearing impairment | 164 / 7739 | ||||
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(HPO:0000384) | Preauricular skin tag | 62 / 7739 | ||||
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(HPO:0000411) | Protruding ear | 140 / 7739 | ||||
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(HPO:0000089) | Renal hypoplasia | 78 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(HPO:0012745) | Short palpebral fissure | 47 / 7739 | ||||
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(OMIM) | Abnormal karyotype in single reported female patient 46, XX,r(18)(p14q23) | 1 / 7739 | ||||
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(OMIM) | Hypoplastic/dysplastic kidney | 1 / 7739 | ||||
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(OMIM) | Normal development | 4 / 7739 | ||||
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(OMIM) | Oronasal fistula | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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