Mirror polydactyly - vertebral segmentation - limbs defects
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Number of Symptoms
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7
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OrphanetNr:
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3004
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OMIM Id:
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ICD-10:
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Q87.2
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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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0.3
of 100 000
[Orphanet]
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Inheritance:
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Age of onset:
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Neonatal
Infancy
[Orphanet]
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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:0003422)
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Vertebral segmentation defect |
Very frequent [Orphanet]
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95 / 7739
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2
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(HPO:0009829)
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Phocomelia |
Very frequent [Orphanet]
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20 / 7739
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3
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(HPO:0009380)
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Aplasia of the fingers |
Very frequent [Orphanet]
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51 / 7739
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4
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(HPO:0001829)
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Foot polydactyly |
Frequent [Orphanet]
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41 / 7739
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5
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(HPO:0100867)
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Duodenal stenosis |
Very frequent [Orphanet]
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29 / 7739
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6
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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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7
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(HPO:0010515)
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Aplasia/Hypoplasia of the thymus |
Frequent [Orphanet]
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17 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |