However, it is noteworthy that a case of Nager syndrome with a de novo deletion at chromosome 1q21.2 that covers SF3B4 has been described [33], supporting SF3B4 haploinsufficiency as the primary driver of the craniofacial and limb defects observed in these acrofacial dysostosis phenotypes. The gene discussed is SF3B4; the disease is acrofacial dysostosis.