Blepharophimosis Syndrome

Excerpt

Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES), or blepharophimosis syndrome, is a rare genetic disorder characterized by 4 major features present at birth: blepharophimosis, ptosis, epicanthus inversus, and telecanthus. First described by Dr. Komoto in 1921.

These features are associated with a high incidence of amblyopia if not surgically corrected. Two types of BPES have been described. Type I presents with classic facial features and is associated with premature ovarian failure (POF). Type II is characterized by the classic facial features alone.