Brachyolmia Type 4 with Mild Epiphyseal and Metaphyseal Changes (BCYM4)

Brachyolmia Type 4 with Mild Epiphyseal and Metaphyseal Changes, also known as spondyloepimetaphyseal dysplasia, pakistani type, is related to brachyolmia type 1, hobaek type and coxa vara. An important gene associated with Brachyolmia Type 4 with Mild Epiphyseal and Metaphyseal Changes is PAPSS2 (3'-Phosphoadenosine 5'-Phosphosulfate Synthase 2). Affiliated tissues include bone, and related phenotypes are short stature and acne. (Brachyolmia Type 4 with Mild Epiphyseal and Metaphyseal Changes是一种与Brachyolmia Type 1、hobaek型和coxa vara相关的疾病，其重要基因是PAPSS2(3'-Phosphoadenosine 5'-Phosphosulfate Synthase 2)，相关组织包括骨骼，相关表型为身材矮小和痤疮。)