Say-Field-Coldwell syndrome
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Triphalangeal thumbs - dislocation of patella
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Number of Symptoms
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11
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OrphanetNr:
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3133
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OMIM Id:
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190650
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ICD-10:
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Q74.8
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UMLs:
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C1860805
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MeSH:
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C536619
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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 duplication, polydactyly, syndactyly, and/or hyperphalangy
-Rare bone disease
-Rare developmental defect during embryogenesis
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1
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(HPO:0000445)
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Wide nose |
Very frequent [Orphanet]
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190 / 7739
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2
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(HPO:0005001)
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Recurrent patellar dislocation |
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4 / 7739
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3
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(HPO:0004279)
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Short palm |
Very frequent [Orphanet]
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323 / 7739
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4
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(HPO:0001177)
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Preaxial hand polydactyly |
Very frequent [Orphanet]
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59 / 7739
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5
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(HPO:0002999)
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Patellar dislocation |
Very frequent [Orphanet]
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46 / 7739
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6
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(HPO:0010488)
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Aplasia/Hypoplasia of the palmar creases |
Very frequent [Orphanet]
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15 / 7739
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7
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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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8
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(HPO:0004322)
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Short stature |
Very frequent [Orphanet]
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1232 / 7739
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9
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(HPO:0012758)
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Neurodevelopmental delay |
Very frequent [Orphanet]
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949 / 7739
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10
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(HPO:0000006)
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Autosomal dominant inheritance |
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2518 / 7739
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11
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(HPO:0001199)
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Triphalangeal thumb |
Very frequent [Orphanet]
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56 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |