A total of seven genes have been identified in association with CdLS, including NIPBL (~50–70%), SMC1A, SMC3, BRD4, HDAC8 (~4%), RAD21, and ANKRD11. Roberts syndrome is an autosomal recessive disorder related phenotypically to CdLS, with affected patients demonstrating facial dysmorphisms, limb reduction and growth retardation. This evidence concerns the gene BRD4 and Cornelia de Lange syndrome.