We were therefore not surprised to see that the expression levels of genes linked to skeletal ciliopathies were abnormal in models of ACH compared to controls; these genes included Dync2li1 (the pathogenic gene in short rib polydactyly syndrome) and Kif22 (the pathogenic gene in spondyloepimetaphyseal dysplasia with joint laxity).41,42. This evidence concerns the gene DYNC2LI1 and spondyloepimetaphyseal dysplasia, matrilin-3 type.