Arthrogryposis - hyperkeratosis, lethal form
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Johnston-Aarons-Schelley syndrome
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Number of Symptoms
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7
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OrphanetNr:
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1485
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OMIM Id:
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208158
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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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2
cases
[Orphanet]
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Inheritance:
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Unknown
[Orphanet]
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Age of onset:
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Neonatal
[Orphanet]
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Disease classification (adopted from Orphanet):
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Parent Diseases:
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Arthrogryposis multiplex congenita
-Rare developmental defect during embryogenesis
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1
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(HPO:0001276)
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Hypertonia |
Very frequent [Orphanet]
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317 / 7739
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2
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(HPO:0012639)
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Abnormality of nervous system morphology |
Very frequent [Orphanet]
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25 / 7739
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3
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(HPO:0002804)
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Arthrogryposis multiplex congenita |
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93 / 7739
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4
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(HPO:0001387)
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Joint stiffness |
Very frequent [Orphanet]
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322 / 7739
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5
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(HPO:0000962)
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Hyperkeratosis |
Very frequent [Orphanet]
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216 / 7739
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6
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(HPO:0000958)
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Dry skin |
Very frequent [Orphanet]
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152 / 7739
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7
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(HPO:0011420)
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Death |
Very frequent [Orphanet]
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184 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |