MEHMO syndrome: Review and proposed classification as an eIF2-related neuroendocrinopathy

MEHMO syndrome (OMIM#300148) is a rare, X-linked, multisystemic condition that predominantly involves endocrinologic and neurologic dysfunctions. Initial naming of the syndrome emphasizes the presentation of Mental disability, Epileptic seizures, Hypogonadism/Hypogenitalism, Microcephaly, and Obesity. This review provides a synthesis of the genetics, genotypes, and phenotypes of publicly available information on EIF2S3 and MEHMO syndrome. Identification and confirmation of variants in the gene EIF2S3 as the genetic underpinning of the syndrome's pathophysiology and reports of additional cases suggest a consideration for a re-definition of the acronym and a re-classification of the condition along with others as eIF2-related neuroendocrinopathies. This would allow for more standardized and encompassing characterization of the group of eIF2-related disorders, that in turn would support and continue to spur further research progress in basic pathophysiology, disease diagnosis and monitoring, and biomarker and therapeutic discoveries.