label: Spondyloepimetaphyseal Dysplasia with Joint Laxity Type 2
label_lc: spondyloepimetaphyseal dysplasia with joint laxity type 2
description: A rare disorder caused by mutation in the KIF22 gene. It is characterized by short stature, midface retrusion, progressive knee malalignment, generalized ligamentous laxity, and mild spinal deformity.