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Up to: Inborn errors of metabolism · Mineral metabolism disease · Spondyloepimetaphyseal dysplasia
Spondyloepimetaphyseal dysplasia, PAPSS2 type
A spondyloepimetaphyseal dysplasia characterized by short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence.
This condition has no sub-types.