label: spondyloepimetaphyseal dysplasia, Strudwick type
label_lc: spondyloepimetaphyseal dysplasia, strudwick type
description: "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)."