Spondyloepimetaphyseal dysplasia, Strudwick type
Spondyloepimetaphyseal dysplasia, Strudwick type
Definition
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 — per MONDO