Mutations in TRPV4 lead to a variety of conditions including different types of skeletal dysplasia (affected bone growth), brachydactyly (shortness of fingers and toes), familial digital arthropathy brachydactyly (FDAB), a progressive osteoarthropathy [123,124], as well as neuropathies including sensory and motor defects [125]. Here, TRPV4 is linked to skeletal dysplasia.