TIBIAL TORSION, BILATERAL MEDIAL
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 6 |
| OrphanetNr: | |
| OMIM Id: |
188800
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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:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal dominant inheritance [Omim] |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: | No data available. |
Symptom Information:
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(HPO:0100694) | Tibial torsion | 2 / 7739 | ||||
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(HPO:0002979) | Bowing of the legs | 28 / 7739 | ||||
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(HPO:0002992) | Abnormality of the tibia | 51 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(OMIM) | Bowleg | 3 / 7739 | ||||
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(OMIM) | Tibial scoliosis | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Description: (OMIM) |
Tibial torsion (twisting of the tibia) can cause toeing in or out, depending on whether it is internal or external torsion. Although some degree of internal tibial torsion is present in almost all infants because of the intrauterine ... |
| Clinical Description OMIM | Blumel et al. (1957) reported a family in which 8 persons in 4 generations had bilateral medial tibial torsion. Bowing of the legs was the main clinical feature. No male-to-male transmission was observed. |