BNAR syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
BNAR Bifid nose with or without anorectal and renal anomalies |
| Number of Symptoms | 7 |
| OrphanetNr: | 217266 |
| OMIM Id: |
608980
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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: | No data available. |
| 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 Rare otorhinolaryngological malformation -Rare developmental defect during embryogenesis -Rare genetic disease -Rare otorhinolaryngologic disease Syndromic anorectal malformation -Rare abdominal surgical disease -Rare developmental defect during embryogenesis -Rare genetic disease Syndromic renal or urinary tract malformation -Rare developmental defect during embryogenesis -Rare genetic disease -Rare renal disease |
Symptom Information:
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(HPO:0000077) | Abnormality of the kidney | 73 / 7739 | ||||
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(HPO:0000143) | Rectovaginal fistula | 18 / 7739 | ||||
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(HPO:0000322) | Short philtrum | 130 / 7739 | ||||
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(HPO:0011803) | Bifid nose | 19732862 | IBIS | 12 / 7739 | ||
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(HPO:0000414) | Bulbous nose | 63 / 7739 | ||||
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(HPO:0001545) | Anteriorly placed anus | 55 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Clinical Description OMIM |
Al-Gazali et al. (2002) reported a consanguineous Egyptian Arab family in which 4 sibs had bifid nose associated with renal and anorectal malformations. All had median nose clefts, wide bulbous nasal tip, short philtrum, but no hypertelorism. All ... |
| Molecular genetics OMIM |
In affected members of 3 consanguineous families with bifid nose with or without anorectal and renal anomalies mapping to chromosome 9p23-p22.2, including the Egyptian Arab family originally reported by Al-Gazali et al. (2002), Alazami et al. (2009) sequenced ... |