Orphanet rare-disease nomenclature term Orphanet_261572 (Blepharophimosis - epicanthus inversus - ptosis due to a point mutation) can be described as follows. Blepharophimosis-epicanthus inversus-ptosis (BPES) due to a point mutation is a form of BPES (see this term), 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.