Imperforate oropharynx - costo vetebral anomalies
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Seghers syndrome
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Number of Symptoms
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20
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OrphanetNr:
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2759
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OMIM Id:
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ICD-10:
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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:
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Prevalence:
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No data available.
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Inheritance:
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Age of onset:
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Disease classification (adopted from Orphanet):
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Parent Diseases:
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Dysostosis with predominant vertebral and costal involvement
-Rare bone disease
-Rare developmental defect during embryogenesis
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1
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(HPO:0000286)
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Epicanthus |
Frequent [Orphanet]
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371 / 7739
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2
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(HPO:0000153)
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Abnormality of the mouth |
Very frequent [Orphanet]
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60 / 7739
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3
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(HPO:0000600)
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Abnormality of the pharynx |
Very frequent [Orphanet]
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22 / 7739
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4
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(HPO:0000431)
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Wide nasal bridge |
Frequent [Orphanet]
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290 / 7739
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5
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(HPO:0000494)
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Downslanted palpebral fissures |
Frequent [Orphanet]
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328 / 7739
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6
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(HPO:0000453)
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Choanal atresia |
Frequent [Orphanet]
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76 / 7739
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7
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(HPO:0000171)
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Microglossia |
Frequent [Orphanet]
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27 / 7739
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8
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(HPO:0009896)
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Abnormality of the antitragus |
Frequent [Orphanet]
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10 / 7739
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9
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(HPO:0000357)
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Abnormal location of ears |
Very frequent [Orphanet]
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328 / 7739
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10
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(HPO:0008544)
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Abnormally folded helix |
Frequent [Orphanet]
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24 / 7739
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11
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(HPO:0001382)
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Joint hypermobility |
Frequent [Orphanet]
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231 / 7739
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12
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(HPO:0003422)
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Vertebral segmentation defect |
Very frequent [Orphanet]
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95 / 7739
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13
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(HPO:0000921)
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Missing ribs |
Very frequent [Orphanet]
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62 / 7739
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14
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(HPO:0004209)
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Clinodactyly of the 5th finger |
Frequent [Orphanet]
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288 / 7739
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15
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(HPO:0011302)
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Long palm |
Frequent [Orphanet]
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70 / 7739
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16
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(HPO:0000772)
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Abnormality of the ribs |
Very frequent [Orphanet]
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146 / 7739
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17
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(HPO:0001622)
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Premature birth |
Frequent [Orphanet]
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100 / 7739
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18
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(HPO:0001561)
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Polyhydramnios |
Frequent [Orphanet]
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191 / 7739
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19
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(HPO:0002205)
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Recurrent respiratory infections |
Very frequent [Orphanet]
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254 / 7739
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20
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(HPO:0002093)
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Respiratory insufficiency |
Very frequent [Orphanet]
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410 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |