Blount disease
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Infantile tibia vara Osteochondrosis deformans tibiae Tibia vara Blount |
| Number of Symptoms | 6 |
| OrphanetNr: | 2768 |
| OMIM Id: |
188700
259200 |
| ICD-10: |
M92.5 |
| UMLs: |
|
| MeSH: |
C536237 |
| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Bent bone dysplasia
-Rare bone disease -Rare developmental defect during embryogenesis -Rare genetic disease |
Symptom Information:
|
|
(HPO:0010591) | Abnormality of the proximal tibial epiphysis | 1 / 7739 | ||||
|
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(HPO:0002970) | Genu varum | 60 / 7739 | ||||
|
|
(HPO:0002992) | Abnormality of the tibia | Very frequent [Orphanet] | 51 / 7739 | |||
|
|
(HPO:0010886) | Osteochondritis Dissecans | 9 / 7739 | ||||
|
|
(HPO:0000944) | Abnormality of the metaphyses | Very frequent [Orphanet] | 141 / 7739 | |||
|
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|