Haploinsufficiency for EFTUD2, which encodes a GTPase in the U5 snRNP and has a regulatory role in catalytic splicing and post-splicing-complex disassembly, causes mandibulofacial dysostosis of the Guion-Almeida type (OMIM 610536), a disorder that shares many clinical features with Rodriguez/Nager syndromes [7]. This evidence concerns the gene EFTUD2 and mandibulofacial dysostosis-microcephaly syndrome.