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Up to: Type 2 collagenopathy · Spondylometaphyseal dysplasia
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.
This condition has no sub-types.