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Definition

A disorder characterized by eyelid dysplasia, small palpebral fissures, drooping eyelids and a skin fold curving in the mediolateral direction, inferior to the inner canthus. In type I BPSE (BPES1) eyelid abnormalities are associated with female infertility. Affected females show an ovarian deficit due to primary amenorrhea or to premature ovarian failure (POF). In type II BPSE (BPES2) affected individuals show only the eyelid defects.

Acronym

BPES

Synonyms

Autosomal dominant BPES type I
Autosomal recessive BPES type I
Blepharophimosis syndrome
BPES type I
BPES type II
BPES with Duane retraction syndrome
BPES without ovarian failure
BPES with ovarian failure

 
Disclaimer

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