Specialty medical genetics ICD-9-CM 374.46, 743.62 DiseasesDB 33297 | ICD-10 H02.5, Q10.3 OMIM 110100 MeSH D016569 | |
Blepharophimosis is a congenital condition characterized by a horizontally narrow palpebral fissure. It is also part of a syndrome Blepharophimosis, ptosis, and epicanthus inversus syndrome, also called Blepharophimosis syndrome, which 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; the eyes are also spaced more widely apart than usual, also known as telecanthus. Vignes (1889) probably first described this entity, a dysplasia of the eyelids.
Contents
Presentation
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
Blepharophimosis syndrome is an autosomal dominant characterized by blepharophimosis (horizontal shortening of the palpebral fissures), ptosis (upper eyelid drooping, usually with the characteristics of congenital ptosis), epicanthus inversus (skin folds by the nasal bridge, more prominent lower than upper lid), and telecanthus (widening of the distance between the medial orbital walls). This syndrome is caused by mutations in the FOXL2 gene, either with premature ovarian failure (BPES type I) or without (BPES type II). It may also be associated with lop ears, ectropion, hypoplasia of superior orbital rims, and hypertelorism.