EVC (EvC ciliary complex subunit 1) is a component of the EvC complex that positively regulates Hedgehog (Hh) signaling in primary cilia, playing a critical role in endochondral bone growth and skeletal development 1. The protein functions within ciliary complexes essential for normal skeletal morphogenesis, as defects in EVC and related ciliary components cause profound skeletal abnormalities including short ribs, short limbs, and polydactyly 2. EVC mutations cause Ellis-van Creveld (EVC) syndrome, an autosomal recessive skeletal ciliopathy characterized by short stature, postaxial polydactyly, congenital cardiac defects (occurring in ~60% of cases), and dysplastic fingernails and teeth 3. Biallelic EVC variants show variable clinical severity, with missense variants and heterozygous forms presenting milder phenotypes 4. The EVC and EVC2 genes, located head-to-head on chromosome 4, are causative for the syndrome 5. A recently identified genetic modifier, CRMP1, whose coding region partially overlaps with EVC, influences disease severity 4. EVC syndrome belongs to the skeletal ciliopathies—a broader class of disorders caused by primary ciliary dysfunction affecting skeletal development 2. While EVC dysfunction impairs Hh signaling, complete pathway inhibition shows limited therapeutic benefit in osteoarthritis models, suggesting hypertrophic chondrocyte phenotypes involve multiple pathogenic mechanisms 1.