CdLS is a malformative syndrome affecting many organs, including central nervous system, gastrointestinal and musculoskeletal [15] CdLS is genetically heterogeneous (CdLS1 MIM 122470, CdLS2 MIM 300590, CdLS3 MIM 610759, CdLS4 MIM 614701, CdLS5 MIM 300882), with a broad clinical expressivity and up to 80% of cases carry heterozygous autosomal or X-linked mutations in one of cohesin complex components/regulators: SMC1A, SMC3, RAD21, NIPBL, HDAC8 [16]. This evidence concerns the gene NIPBL and Cornelia de Lange syndrome.