ESCO2 and Roberts-SC phocomelia syndrome: Roberts syndrome (RBS), a cohesinopathy caused by mutations in the cohesin regulator ESCO2 (establishment of cohesion 2), shares hallmark phenotypes with DNA repair deficiency diseases such as ataxia telangiectasia, Bloom syndrome, Fanconi anemia, and Cockayne syndrome (Mfarej & Skibbens, 2020).