Spondyloepiphyseal dysplasia congenita
Spondyloepiphyseal dysplasia congenita
Definition
A chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses and flattened vertebral bodies.
Also known as SED congenita, SEDC, spondyloepiphyseal dysplasia congenita, Spondyloepiphyseal Dysplasia, Congenital, spondyloepiphyseal dysplasia, congenital type, Spranger-Wiedemann disease — per MONDO