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Metaphyseal acroscyphodysplasia
rareMetaphyseal acroscyphodysplasia is an extremely rare form of metaphyseal dysplasia characterized by the distinctive radiological sign of cone-shaped upper tibial and lower femoral epiphyses embedded in large cup-shaped metaphyses, associated with short stature and micromelia. Upper limb involvement includes brachydactyly and phalangeal and metacarpal cone-shaped epiphyses. The association of metaphyseal acroscyphodysplasia with psychomotor delay and alopecia has also been reported in some cases.
- Identifiers
- MONDO:0009592 OMIM:250215Orphanet:1240
- Part of
- Skeletal dysplasia
- Also known as
- Bellini Chiumello Rimoldi syndrome · Bellini syndrome · intellectual disability-short stature-wedge-shaped epiphyses of knees syndrome · wedge-shaped epiphyses of knees · wedge-shaped epiphyses of the knees with intellectual disability and short stature
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