Blepharophimosis-epicanthus inversus-ptosis due to 3q23 rearrangement syndrome

Blepharophimosis-epicanthus inversus-ptosis due to 3q23 rearrangement syndrome

Definition

Blepharophimosis - epicanthus inversus - ptosis (BPES) due to 3q23 microdeletion is a form of BPES, which in addition to the classical eyelids features of BPES, present genitourinary anomalies, spastic diplegia and speech delay.

Also identified as