Rhizomelic dysplasia, Patterson-Lowry type
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Number of Symptoms
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25
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OrphanetNr:
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2831
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OMIM Id:
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601438
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ICD-10:
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Q78.8
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UMLs:
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C1832359
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MeSH:
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C537609
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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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Age of onset:
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Disease classification (adopted from Orphanet):
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Parent Diseases:
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Mesomelic and rhizo-mesomelic dysplasia
-Rare bone disease
-Rare developmental defect during embryogenesis
-Rare genetic disease
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1
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(HPO:0008905)
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Rhizomelia |
Very frequent [Orphanet]
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85 / 7739
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2
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(HPO:0002857)
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Genu valgum |
Very frequent [Orphanet]
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144 / 7739
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3
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(HPO:0009466)
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Radial deviation of finger |
Very frequent [Orphanet]
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101 / 7739
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4
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(HPO:0001156)
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Brachydactyly syndrome |
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180 / 7739
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5
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(HPO:0002812)
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Coxa vara |
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58 / 7739
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6
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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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7
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(HPO:0001163)
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Abnormality of the metacarpal bones |
Very frequent [Orphanet]
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149 / 7739
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8
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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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9
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(HPO:0003063)
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Abnormality of the humerus |
Very frequent [Orphanet]
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36 / 7739
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10
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(HPO:0005687)
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Deformed humeral heads |
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1 / 7739
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11
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(HPO:0005792)
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Short humerus |
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34 / 7739
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12
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(HPO:0000303)
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Mandibular prognathia |
Very frequent [Orphanet]
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179 / 7739
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13
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(HPO:0003312)
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Abnormal form of the vertebral bodies |
Very frequent [Orphanet]
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172 / 7739
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14
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(HPO:0000926)
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Platyspondyly |
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150 / 7739
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15
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(HPO:0003307)
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Hyperlordosis |
Very frequent [Orphanet]
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122 / 7739
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16
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(HPO:0012368)
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Flat face |
Very frequent [Orphanet]
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106 / 7739
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17
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(HPO:0100729)
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Large face |
Very frequent [Orphanet]
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19 / 7739
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18
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(HPO:0000457)
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Depressed nasal ridge |
Very frequent [Orphanet]
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85 / 7739
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19
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(HPO:0003196)
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Short nose |
Very frequent [Orphanet]
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264 / 7739
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20
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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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21
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(HPO:0000286)
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Epicanthus |
Very frequent [Orphanet]
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371 / 7739
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22
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(MedDRA:10072883)
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Brachydactyly |
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153 / 7739
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23
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(OMIM)
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Anomalous segmentation of proximal humeral metaphyses |
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1 / 7739
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24
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(OMIM)
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Brachymetacarpalia |
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3 / 7739
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25
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(OMIM)
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Short bowed humeri |
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1 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |