Disease-gene associations mined from literature

Human genes for blepharophimosis

Blepharophimosis [DOID:10348]

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. Both the vertical and horizontal palpebral fissures (eyelid opening) are shortened. Vignes (1889) probably first described this entity, a dysplasia of the eyelids.

Synonyms:  blepharophimosis,  DOID:10348

Linkouts:  OMIM #1 #2