Spondyloepimetaphyseal dysplasia, Strudwick type

MONDO:0008476

A spondyloepimetaphyseal dysplasia 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).

Also known as: spondyloepimetaphyseal dysplasia, Strudwick type, SEMD, Strudwick type, SEMDSTWK, SMED Strudwick type, SMED type 1, Semdc, SmD, Smed, Strudwick type

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