Deafness - ear malformation - facial palsy
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Sellars-Beighton syndrome
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Number of Symptoms
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13
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OrphanetNr:
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3232
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OMIM Id:
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124490
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ICD-10:
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Q87.0
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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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Autosomal dominant inheritance
[Omim]
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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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Syndromic genetic deafness
-Rare developmental defect during embryogenesis
-Rare genetic disease
-Rare otorhinolaryngologic disease
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1
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(HPO:0007209)
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Facial paralysis |
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8 / 7739
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2
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(HPO:0010628)
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Facial palsy |
Very frequent [Orphanet]
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146 / 7739
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3
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(HPO:0009796)
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Branchial cyst |
Frequent [Orphanet]
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32 / 7739
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4
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(HPO:0000405)
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Conductive hearing impairment |
Very frequent [Orphanet]
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164 / 7739
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5
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(HPO:0000372)
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Abnormality of the auditory canal |
Very frequent [Orphanet]
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49 / 7739
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6
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(HPO:0004452)
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Abnormality of the middle ear ossicles |
Very frequent [Orphanet]
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26 / 7739
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7
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(HPO:0009906)
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Aplasia/Hypoplasia of the earlobes |
Very frequent [Orphanet]
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41 / 7739
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8
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(HPO:0008572)
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External ear malformation |
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6 / 7739
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9
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(HPO:0009738)
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Abnormality of the antihelix |
Very frequent [Orphanet]
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37 / 7739
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10
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(HPO:0008772)
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Aplasia/Hypoplasia of the external ear |
Very frequent [Orphanet]
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67 / 7739
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11
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(HPO:0008628)
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Abnormality of the stapes |
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1 / 7739
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12
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(HPO:0000006)
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Autosomal dominant inheritance |
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2518 / 7739
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13
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(OMIM)
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Variable external ear malformation |
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1 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |