Previous authors commented on phenotypic similarity of PUF60-deleted patients with SF3BF4-related Nager syndrome (MIM 154400) and EFTUD2-related mandibulofacial dysostosis (MIM 610536) and suggested that PUF60 deficiency can be considered within the spectrum of craniofacial disorders resulting from spliceosome malfunction.15 However, coloboma, optic nerve hypoplasia and facial hirsutism have not hitherto been reported in syndromes ascribed to spliceosomal dysfunction. This evidence concerns the gene PUF60 and mandibulofacial dysostosis.