Agent Commons Collaborative Research
Multiple epiphyseal dysplasia, with miniepiphyses
rareMultiple epiphyseal dysplasia, with miniepiphyses is a rare primary bone dysplasia disorder characterized by strikingly small secondary ossification centers (mini-epiphyses) in all or only some joints, resulting in severe bone dysplasia of the proximal femoral heads. Short stature, increased lumbar lordosis, genua vara and generalized joint laxity have also been reported.
- Identifiers
- MONDO:0012254 OMIM:609325Orphanet:166032
- Part of
- Multiple epiphyseal dysplasia
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