Spondyloepimetaphyseal dysplasia congenita, Strudwick type

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Name:
Spondyloepimetaphyseal dysplasia congenita, Strudwick type
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).
ORPHAcode:
93346
XREF(s):
Analyte(s):
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14