Mandibulofacial dysostosis-microcephaly syndrome

Mandibulofacial dysostosis with microcephaly syndrome, often shortened to MFDM syndrome, is a rare genetic disorder marked by developmental delay, intellectual disability and differences in the shape of the face and skull. Children are usually born with a small head, and it tends to grow more slowly than the rest of the body. Typical findings include underdeveloped cheekbones and midface, a small jaw and small, oddly shaped ears, with hearing loss in many patients. Cleft palate and blocked nasal passages (choanal atresia) can cause breathing difficulty, and some patients have short stature or heart, thumb or esophageal defects. It arises from inherited autosomal recessive mutations in the EFTUD2 gene, which is needed to build the spliceosome that matures messenger RNA. Care treats the individual problems, through surgery, hearing devices, breathing support and speech and occupational therapy. About one hundred cases have been described in the literature, and the condition was first reported in 2000.