Proximal radioulnar synostosis
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Number of Symptoms
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9
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OrphanetNr:
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3269
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OMIM Id:
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179300
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ICD-10:
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Q74.0
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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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Joint formation defects
-Rare bone disease
-Rare developmental defect during embryogenesis
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1
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(HPO:0001377)
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Limited elbow extension |
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38 / 7739
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2
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(HPO:0002974)
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Radioulnar synostosis |
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52 / 7739
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3
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(HPO:0003083)
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Dislocated radial head |
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35 / 7739
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4
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(OMIM)
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Radioulnar fusion distal to the proximal radial epiphysis with congenital radial head dislocation (Type 2) |
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1 / 7739
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5
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(OMIM)
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(Type 1) |
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2 / 7739
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6
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(HPO:0000006)
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Autosomal dominant inheritance |
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2518 / 7739
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7
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(OMIM)
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Limited elbow extension in Type 2 |
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1 / 7739
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8
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(OMIM)
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Limited forearm pronation and supination |
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3 / 7739
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9
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(OMIM)
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Proximal, smooth radioulnar fusion with absent radial head |
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1 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |