Blepharophimosis

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Blepharophimosis
Classification and external resources
ICD-10 H02.5, Q10.3
ICD-9 374.46, 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.

Presentation[edit]

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.

BPES[edit]

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]

References[edit]

External links[edit]