Blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndrome

Blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndrome

Definition

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 — per MONDO

Also identified as