Conradi‐Hünermann‐Happle syndrome (CHHS) or X‐linked dominant chondrodysplasia punctata (CDPX2, OMIM 302960) is a rare type of chondrodysplasia punctata associated with X‐linked dominant variants in the emopamil binding protein (EBP) gene, which impairs cholesterol biosynthesis [1]. This evidence concerns the gene EBP and chondrodysplasia punctata.