NIPBL and Cornelia de Lange syndrome: CdLS is congenital multisystemic genetic disorder associated with pathogenic variants in the cohesin core units (SMC1A, SMC3, RAD21) as well as HDAC8, BRD4, and ANKRD11 [13]; however, up to 70% of cases have been linked to mutations in cohesin loader NIPBL [13,14,15].