Mandibulofacial dysostosis with microcephaly (MFDM) is characterised by microcephaly, moderate to severe learning disability, external ear malformations, deafness, cleft palate, choanal and aural atresia, congenital heart malformation, renal malformations and oesophageal atresia. Patients have facial dysmorphism including mid-face hypoplasia, micrognathia and characteristic external ear malformation with small, simple, protuberant ears. Patients with Mandibulofacial dysostosis with microcephaly smaller than -3 S.D should be considered for testing.

MFDM is caused by variants in the EFTUD2 gene (Lines et al 2012 AJHG 90, 369-377). MFDM is inherited in an autosomal dominant manner but most variants that have been reported to date have arisen de novo. Gordon et al identified loss of function mutations or deletions of the EFTUD2 gene in 11/14 (79%) patients who met diagnostic criteria for MFDM (Gordon et al 2012 J Med Genet 49, 737-746).

The laboratory participates in the European Molecular Genetics Quality Network (EMQN) sequencing scheme.