Pathogenic variants associated with CdLS or CdLS-like phenotypes have been identified in genes involved in chromatin regulation such as BRD4 and AFF4 (CHOPS syndrome, OMIM 616368), ANKRD11 (KBG syndrome, OMIM 148050), EP300 (Rubinstein–Taybi syndrome, RSTS, OMIM 613684), KMT2A (Wiedemann–Steiner syndrome, WDSTS, OMIM 605130), and genes associated with Coffin–Siris syndrome (CSS), including ARID1B (OMIM 614556), ARID1A (OMIM 603024), SMARCB1 (OMIM 601607), SMARCA4 (OMIM 603254), SMARCE1 (OMIM 603111), ARID2 (OMIM 609539), SOX11 (OMIM 600898), and DPF2 (OMIM 601671). Here, AFF4 is linked to Cornelia de Lange syndrome.