Extensor tendons of finger anomalies
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Hapnes-Boman-Skeie syndrome
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Number of Symptoms
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9
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OrphanetNr:
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3294
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OMIM Id:
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187390
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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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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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Syndrome with limb malformations as a major feature
-Rare developmental defect during embryogenesis
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1
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(HPO:0100490)
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Camptodactyly of finger |
Very frequent [Orphanet]
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212 / 7739
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2
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(HPO:0001387)
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Joint stiffness |
Frequent [Orphanet]
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322 / 7739
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3
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(HPO:0004349)
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Reduced bone mineral density |
Frequent [Orphanet]
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165 / 7739
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4
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(HPO:0001012)
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Multiple lipomas |
Very frequent [Orphanet]
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43 / 7739
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5
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(HPO:0003202)
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Skeletal muscle atrophy |
Frequent [Orphanet]
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281 / 7739
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6
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(OMIM)
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Bilateral anomalous attachment of four ulnar finger extensor tendons |
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1 / 7739
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7
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(OMIM)
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Inability to extend fingers |
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1 / 7739
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8
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(HPO:0000006)
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Autosomal dominant inheritance |
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2518 / 7739
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9
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(OMIM)
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Constant midphalangeal joint flexion |
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1 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |