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Up to: Autosomal dominant disease · Spondyloepimetaphyseal dysplasia with joint laxity
Spondyloepimetaphyseal dysplasia with multiple dislocations
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.
This condition has no sub-types.