Pathogenic variants in the EFTUD2 gene are responsible for mandibulofacial dysostosis with microcephaly (MFDM), characterized by the following phenotypic features: microcephaly, asymmetry of facial features with unusual ears with preauricular tags, sensorineural deafness, a small jaw and major defects including choanal atresia, cleft palate, cardiac defects and even esophageal atresia as well as significant developmental delay and speech delay. Here, EFTUD2 is linked to microcephaly.