Spondyloepiphyseal dysplasia congenita

MONDO:0008471

A chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses and flattened vertebral bodies.

Also known as: SED congenita, SEDC, Spondyloepiphyseal Dysplasia, Congenital, Spranger-Wiedemann disease, spondyloepiphyseal dysplasia congenita, spondyloepiphyseal dysplasia, congenital type, congenital spondyloepiphyseal dysplasia

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