As a congenital multisystemic disorder sharing some similar clinical features with CdLS, Rubinstein-Taybi syndrome (RSTS;OMIM180849,613,684) arises from dysfunction in cyclic-AMP-regulated enhancer binding protein (CREBBP) and E1A binding protein p300 (EP300) as transcriptional co-activators [24, 25]. The gene discussed is EP300; the disease is Rubinstein-Taybi syndrome.