blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndrome (MONDO_0016858) can be described as follows. Blepharophimosis-epicanthus inversus-ptosis (BPES) due to a point mutation is a form of BPES, characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be accompanied by growth retardation and primary ovary failure. Also known as: blepharophimosis types 1 and 2 due to a point mutation.