BLOUNT DISEASE, ADOLESCENT
General Information (adopted from Orphanet):
| Synonyms, Signs: |
TIBIA VARA, ADOLESCENT OSTEOCHONDROSIS DEFORMANS TIBIAE, ADOLESCENT |
| Number of Symptoms | 5 |
| OrphanetNr: | |
| OMIM Id: |
259200
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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: |
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| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: | No data available. |
Symptom Information:
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(HPO:0002970) | Genu varum | 60 / 7739 | ||||
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(HPO:0010886) | Osteochondritis Dissecans | 9 / 7739 | ||||
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(OMIM) | Osteochondrosis deformans tibiae | 1 / 7739 | ||||
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(OMIM) | Bowleg | 3 / 7739 | ||||
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(OMIM) | Tibia vara | 3 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Description: (OMIM) | Blount disease is a developmental condition characterized by disordered endochondral ossification of the medial part of the proximal tibial physis resulting in multiplanar deformities of the lower limb (review by Sabharwal, 2009). |
| Clinical Description OMIM |
Blount (1937) distinguished infantile (188700) and adolescent forms. The description by Tobin (1957) of tibia vara beginning at puberty with osteochondritis dissecans of the knees (see 165800) in father and 2 sons suggested that the 2 ... |