TRPV4-related skeletal dysplasias encompass a clinical spectrum, including metatropic dysplasia (MD), spondylometaphyseal dysplasia, Kozlowski type (SMDK), and autosomal dominant brachyolmia (BO) [5], which share overlapping radiographic features but differ in severity, distribution of skeletal involvement, and extra-skeletal complications [18]. This evidence concerns the gene TRPV4 and Menkes disease.