Parents

Shashi Pena syndrome (SPS) is caused by changes in the ASXL2 gene. According to known information to date, the disorder is caused by new changes in the ASXL2 gene (i.e. not inherited from a parent). Affected individuals can have a specific facial appearance of wide-set and prominent eyes, a red, flat birthmark on the forehead, developmental delays, and cognitive disabilities of varying severity.