The syndrome caused by pathogenic variants in the MEIS2 gene is a multisystem disorder characterized by a triad of cleft palate, cardiac defects, and intellectual disability. Other features include a distinct facial phenotype, feeding problems, varying degrees of developmental delay and autism spectrum disorder.
At the time of this review (June 2021), there are 18 individuals with pathogenic variants in MEIS2 described in the literature.
Pathogenic variants in MEIS2 are inherited in a dominant matter and occur mostly de novo. The mutation spectrum includes deletions, intragenic variants, and less commonly missense variants.
MEIS2