ESCO2 and Roberts-SC phocomelia syndrome: Additionally, mutations in three Cohesin subunits (SMC1α, SMC3, RAD21) [191, 192] and in one Cohesin-interacting protein (NIPBL) [193] have been found causal for CdLS, whereas mutations in ESCO2 are responsible for Roberts syndrome/SC Phocomelia (OMIM# 269000) [194].