Spondyloepimetaphyseal dysplasia congenita, Strudwick type
Name: |
Spondyloepimetaphyseal dysplasia congenita, Strudwick type
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Description: |
Spondyloepimetaphyseal dysplasia congenita, Strudwick type is characterized by disproportionate short stature from birth (with a very short trunk and shortened limbs) and skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses).
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ORPHAcode: |
93346
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XREF(s): | |
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Created: |
13 May 2019 - 01:02
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Changed: |
22 Jun 2023 - 16:14
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