Blepharophimosis is a dysplasia of the eyelids characterized by horizontal shortening of the palpebral fissure. It is often associated with ptosis or telecanthus 2.
Blepharophimosis is a feature of Dubowitz syndrome and Smith Lemli Opitz syndrome.
Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) is caused by a mutation of the FOXL2 gene. It can occur with (type I), or without premature ovarian failure (type II).