biostudies-literatureRaible SEChildren's Hospital of Philadelphia Research Institute Institutional Developmental FundJSPS KAKENHIPediatrics Department of Beijing 307 HospitalTakeda Science FoundationNIEHS NIH HHSJapan Agency for Medical Research and DevelopmentCenter for Cornelia de Lange Syndrome and Related Diagnoses at CHOPRoberts Individualized Medical genetics Center (RIMGC)Japan Agency for Medical Research and Development (AMED)1126-1138https://www.ebi.ac.uk/biostudies/studies/S-EPMC7473581biostudies-literatureUnknown179(7)CHOPS syndrome is a multisystem disorder caused by missense mutations in AFF4. Previously, we reported three individuals whose primary phenotype included cognitive impairment and coarse facies, heart defects, obesity, pulmonary involvement, and short stature. This syndrome overlaps phenotypically with Cornelia de Lange syndrome, but presents distinct differences including facial features, pulmonary involvement, and obesity. Here, we provide clinical descriptions of an additional eight individuals with CHOPS syndrome, as well as neurocognitive analysis of three individuals. All 11 individuals presented with features reminiscent of Cornelia de Lange syndrome such as synophrys, upturned nasal tip, arched eyebrows, and long eyelashes. All 11 individuals had short stature and obesity. CongenitaAmerican journal of medical genetics. Part AClinical and molecular spectrum of CHOPS syndrome.PMC7473581JP16H05357JP18ek0109280P30 ES013508JP18dm0107090JP17H01539Medne LGuo YNishi EMehta DKaur MHaan EShi XWu HRio MZhao QWhite SMPiccione JKrantz IDMiyake NFiordaliso SPipan MCusmano-Ozog KLu AIzumi KBettale CAllen JRaible SEZhang XHe XOkamoto NLei QMatsumoto NfalseClinical and molecular spectrum of CHOPS syndrome.CHOPS syndrome is a multisystem disorder caused by missense mutations in AFF4. Previously, we reported three individuals whose primary phenotype included cognitive impairment and coarse facies, heart defects, obesity, pulmonary involvement, and short stature. This syndrome overlaps phenotypically with Cornelia de Lange syndrome, but presents distinct differences including facial features, pulmonary involvement, and obesity. Here, we provide clinical descriptions of an additional eight individuals with CHOPS syndrome, as well as neurocognitive analysis of three individuals. All 11 individuals presented with features reminiscent of Cornelia de Lange syndrome such as synophrys, upturned nasal tip, arched eyebrows, and long eyelashes. All 11 individuals had short stature and obesity. Congenita2019-01-01T00:00:00Z2019 Jul2025-04-04T23:59:51.507Z2025-04-04T23:59:51.507ZS-EPMC74735813105844110.1002/ajmg.a.61174