Mutations in Nipbl cause Cornelia de Lange syndrome (CdLS), which is characterized by gene expression defects and altered chromatin compaction but no obvious defects in sister chromatid cohesion (Krantz et al, 2004; Tonkin et al, 2004; Musio et al, 2006; Deardorff et al, 2007; Nolen et al, 2013). Here, NIPBL is linked to Cornelia de Lange syndrome.