Last revised by Frank Gaillard on 14 May 2024

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).

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