Conductive deafness - ptosis - skeletal anomalies
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Jackson-Barr syndrome
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Number of Symptoms
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26
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OrphanetNr:
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3236
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OMIM Id:
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221320
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ICD-10:
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UMLs:
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C1857340
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MeSH:
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C535993
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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 recessive 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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Ectodermal dysplasia syndrome
-Rare developmental defect during embryogenesis
-Rare genetic disease
-Rare skin disease
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1
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(HPO:0000446)
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Narrow nasal bridge |
Very frequent [Orphanet]
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29 / 7739
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2
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(HPO:0000286)
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Epicanthus |
Very frequent [Orphanet]
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371 / 7739
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3
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(HPO:0002705)
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High, narrow palate |
Frequent [Orphanet]
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308 / 7739
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4
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(HPO:0000581)
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Blepharophimosis |
Very frequent [Orphanet]
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197 / 7739
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5
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(HPO:0000682)
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Abnormality of dental enamel |
Very frequent [Orphanet]
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102 / 7739
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6
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(HPO:0000508)
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Ptosis |
Very frequent [Orphanet]
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459 / 7739
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7
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(HPO:0000545)
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Myopia |
Frequent [Orphanet]
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286 / 7739
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8
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(HPO:0000413)
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Atresia of the external auditory canal |
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32 / 7739
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9
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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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10
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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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11
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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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12
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(HPO:0000389)
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Chronic otitis media |
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64 / 7739
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13
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(HPO:0003083)
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Dislocated radial head |
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35 / 7739
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14
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(HPO:0004209)
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Clinodactyly of the 5th finger |
Very frequent [Orphanet]
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288 / 7739
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15
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(HPO:0003042)
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Elbow dislocation |
Very frequent [Orphanet]
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89 / 7739
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16
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(HPO:0001385)
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Hip dysplasia |
Very frequent [Orphanet]
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242 / 7739
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17
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(HPO:0000954)
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Single transverse palmar crease |
Frequent [Orphanet]
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162 / 7739
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18
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(HPO:0002213)
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Fine hair |
Very frequent [Orphanet]
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77 / 7739
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19
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(HPO:0000968)
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Ectodermal dysplasia |
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46 / 7739
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20
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(HPO:0007477)
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Abnormal dermatoglyphics |
Very frequent [Orphanet]
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72 / 7739
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21
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(OMIM)
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Middle ear space atresia |
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1 / 7739
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22
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(OMIM)
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Dysplastic teeth |
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3 / 7739
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23
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(OMIM)
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Hips internally rotated |
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1 / 7739
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24
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(HPO:0000007)
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Autosomal recessive inheritance |
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2538 / 7739
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25
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(OMIM)
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Delayed hair growth |
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2 / 7739
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26
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(OMIM)
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Thin, pinched-nose facial appearance |
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1 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |