Clinical Features
Pathogenic variants in the MEIS2 gene cause a multisystem disorder characterized by cleft palate, cardiac defects, and intellectual disability.
Some individuals also have distinct facial features like thin and arched eyebrows, thin upper lip, prominent nose, and large ears. In addition to feeding problems, varying degrees of developmental delay and autism spectrum disorder.
Prevalence
This is a rare disorder. At the time of this review (June 2021), there were 18 individuals with pathogenic variants in MEIS2 described in literature.
Inheritance
Pathogenic variants in MEIS2 are inherited in a dominant matter and in most cases they appear in the child only (de novo).
MEIS2