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. Here, KIF22 is linked to short rib-polydactyly syndrome.