The TRPV gene family has previously been implicated in skeletal dysplasia: mutations in the TRPV4 gene are associated with skeletal dysplasia, arthritis‐like, and neurological phenotypes including spondylometaphyseal dysplasia Kozlowski type, brachyolmia Type 3, metatropic dysplasia, spondyloepiphyseal dysplasia Maroteaux type, familial digital arthropathy‐brachydactyly, Charcot–Marie–Tooth disease Type 2C, congenital distal spinal muscular atrophy, and scapuloperoneal spinal muscular atrophy (Krakow et al., 2009; Lamandé et al., 2014; Zimoń et al., 2010). The gene discussed is TRPV4; the disease is spondylometaphyseal dysplasia.