However, the effects of blocking TRPV4 on joint size and shape of limbs in the present study are similar to clinically reported osteoarthropathy and joint malformations in TRPV4 channelopathies such as familiar digital arthropathy brachydactyly and spondylo-epimetaphyseal dysplasia maroteaux pseudo-morquio type 2 (36, 67). This evidence concerns the gene TRPV4 and X-linked spondyloepimetaphyseal dysplasia.