label: spondyloepimetaphyseal dysplasia, PAPSS2 type
label_lc: spondyloepimetaphyseal dysplasia, papss2 type
description: "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."