Spondyloepimetaphyseal Dysplasia with Joint Laxity Type 2

**Semantic type:** Disease or Syndrome

**Definition:** 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.

**Synonyms:** - SEMDJL2