Spondylometaphyseal dysplasia, Schmidt type (Q52460)

Spondylometaphyseal dysplasia, Schmidt type is a skeletal dysplasia characterised by short stature, severe genu valgum, small pelvis, progressive kypho-scoliosis, wrist deformity, myopia, short long bones, and severe metaphyseal dysplasia with moderate spinal changes and minimal changes in the hands and feet.