Spondylometaphyseal dysplasia, Schmidt type

A spondylometaphyseal dysplasia caused by a variation in COL2A1 gene. It is characterized by short stature, myopia, small pelvis, progressive kypho-scoliosis, wrist deformity, severe genu valgum, short long bones, and severe metaphyseal dysplasia with moderate spinal changes and minimal changes in the hands and feet.

Also known as: spondylometaphyseal dysplasia Algerian type, spondylometaphyseal dysplasia Schmidt type, spondylometaphyseal dysplasia with severe genu valgum, spondylometaphyseal dysplasia, Algerian type, spondylometaphyseal dysplasia, Schmidt type

1 clinical trial for this condition and its sub-types, 0 tagged with Spondylometaphyseal dysplasia, Schmidt type itself.