/spondyloepimetaphyseal dysplasia, PAPSS2 type

spondyloepimetaphyseal dysplasia, PAPSS2 type

Rare Disease

MONDO:0019666

Also Known As

brachyolmia 4 with mild epiphyseal and metaphyseal changesspondyloepimetaphyseal dysplasia Pakistani typespondyloepimetaphyseal dysplasia, Pakistani typeBCYM4SEMD, Pakistani typebrachyolmia type 4 with mild epiphyseal and metaphyseal changesspondylodysplasia and premature pubarche

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.