So far, more than 70 variants in the TRPV4 gene had been reported to be related to autosomal-dominant skeletal dysplasia and motor and sensory neuropathies, such as Charcot-Marie-Tooth type 2C (CMT2C, OMIM#606482), scapuloperoneal spinal muscular atrophy (SPSMA, OMIM# 181405), spondylometaphyseal dysplasia-Kozlowski type (SMDK, OMIM#184252), and spondylo-epi-metaphyseal dysplasia Maroteaux pseudo-Morquio type 2 (SEDM-PM2, OMIM# 184095). Here, TRPV4 is linked to spondylometaphyseal dysplasia, Kozlowski type.