Spondyloepimetaphyseal dysplasia with multiple dislocations

MONDO:0011335

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.

Also known as: SEMD-MD, SEMDJL2, spondyloepimetaphyseal dysplasia with joint laxicity, Hall type, spondyloepimetaphyseal dysplasia with joint laxity type 2, spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type, spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type, spondyloepimetaphyseal dysplasia with JOINT laxity type 2, spondyloepimetaphyseal dysplasia with JOINT laxity, type 2

0 clinical trials for this condition and its sub-types, 0 tagged with Spondyloepimetaphyseal dysplasia with multiple dislocations itself.

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↑ Autosomal dominant disease (699) ↑ Spondyloepimetaphyseal dysplasia with joint laxity (0)

Including sub-types (0) Tagged with Spondyloepimetaphyseal dysplasia with multiple dislocations (0)

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