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Classification and external resources
Specialty medical genetics
ICD-10 H02.5, Q10.3
ICD-9-CM 374.46, 743.62
OMIM 110100
DiseasesDB 33297
MeSH D016569

Blepharophimosis is a condition where the patient has bilateral ptosis with reduced lid size, vertically and horizontally. The nasal bridge is flat and there is hypoplastic orbital rim.[1] Both the vertical and horizontal palpebral fissures (eyelid opening) are shortened. Vignes (1889) probably first described this entity, a dysplasia of the eyelids.


In addition to small palpebral fissures, features include epicanthus inversus (fold curving in the mediolateral direction, inferior to the inner canthus), low nasal bridge, ptosis of the eyelids and telecanthus.


Blepharophimosis, ptosis, and epicanthus inversus syndrome, either with premature ovarian failure (BPES type I) or without (BPES type II), is caused by mutations in the FOXL2 gene.[2]


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