Spondyloepimetaphyseal dysplasia, PAPSS2 type
Spondyloepimetaphyseal dysplasia, PAPSS2 type
Definition
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.
Also known as brachyolmia 4 with mild epiphyseal and metaphyseal changes, spondyloepimetaphyseal dysplasia, Pakistani type — per MONDO