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.

Also known as: brachyolmia 4 with mild epiphyseal and metaphyseal changes, spondyloepimetaphyseal dysplasia, Pakistani type, BCYM4, SEMD, Pakistani type, brachyolmia type 4 with mild epiphyseal and metaphyseal changes, spondylodysplasia and premature pubarche

1 clinical trial for this condition and its sub-types, 0 tagged with Spondyloepimetaphyseal dysplasia, PAPSS2 type itself.