Absent tibia - polydactyly
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Number of Symptoms
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12
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OrphanetNr:
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988
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OMIM Id:
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188740
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ICD-10:
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Q87.2
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UMLs:
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C1861099
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MeSH:
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C535564
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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 reduction defects
-Rare bone disease
-Rare developmental defect during embryogenesis
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1
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(HPO:0002992)
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Abnormality of the tibia |
Very frequent [Orphanet]
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51 / 7739
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2
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(HPO:0009556)
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Absent tibia |
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9 / 7739
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3
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(HPO:0003045)
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Abnormality of the patella |
Very frequent [Orphanet]
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33 / 7739
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4
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(HPO:0001161)
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Hand polydactyly |
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71 / 7739
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5
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(HPO:0002991)
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Abnormality of the fibula |
Very frequent [Orphanet]
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49 / 7739
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6
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(HPO:0010442)
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Polydactyly |
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69 / 7739
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7
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(HPO:0005048)
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Synostosis of carpal bones |
Frequent [Orphanet]
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39 / 7739
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8
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(HPO:0009601)
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Aplasia/Hypoplasia of the thumb |
Frequent [Orphanet]
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80 / 7739
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9
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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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10
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(HPO:0030680)
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Abnormality of cardiovascular system morphology |
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355 / 7739
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11
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(HPO:0000006)
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Autosomal dominant inheritance |
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2518 / 7739
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12
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(HPO:0030680)
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Abnormality of cardiovascular system morphology |
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355 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |