Pathogenic variants in EFTUD2, which encodes a GTPase and a core component of the U5 subunit of the spliceosome [1], are responsible for the congenital syndrome Mandibulofacial Dysostosis with Microcephaly (MFDM) (OMIM#610536). Here, EFTUD2 is linked to mandibulofacial dysostosis-microcephaly syndrome.