Initially, three patients with a CdLS-like phenotype (intellectual disability, short stature and craniofacial dysmorphism) were identified that carried missense mutations in AFF4. Absence of certain typical CdLS features, including microcephaly, lead to the delineation of a novel syndrome called CHOPS for Cognitive impairment, Coarse facies, Obesity, Pulmonary involvement, Short stature and skeletal dysplasia (OMIM# 616368) (Izumi et al., 2015). Here, AFF4 is linked to skeletal dysplasia.