/spondyloepimetaphyseal dysplasia, Strudwick type

spondyloepimetaphyseal dysplasia, Strudwick type

Rare Disease

MONDO:0008476

Also Known As

spondyloepimetaphyseal dysplasia, Strudwick typeSEMD, Strudwick typeSEMDSTWKSMED Strudwick typeSMED type 1SemdcSmDSmed, Strudwick typeSmed, type 1Strudwick syndromedappled metaphysis syndromespondyloepimetaphyseal dysplasia Strudwick typespondyloepimetaphyseal dysplasia congenita, Strudwick typespondylometaepiphyseal dysplasia congenita, Strudwick typespondylometaphyseal dysplasia

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).