Blepharophimosis

Blepharophimosis
OMIM	110100
DiseasesDB	33297

WikiDoc Resources for Blepharophimosis
Articles
Most recent articles on Blepharophimosis Most cited articles on Blepharophimosis Review articles on Blepharophimosis Articles on Blepharophimosis in N Eng J Med, Lancet, BMJ
Media
Powerpoint slides on Blepharophimosis Images of Blepharophimosis Photos of Blepharophimosis Podcasts & MP3s on Blepharophimosis Videos on Blepharophimosis
Evidence Based Medicine
Cochrane Collaboration on Blepharophimosis Bandolier on Blepharophimosis TRIP on Blepharophimosis
Clinical Trials
Ongoing Trials on Blepharophimosis at Clinical Trials.gov Trial results on Blepharophimosis Clinical Trials on Blepharophimosis at Google
Guidelines / Policies / Govt
US National Guidelines Clearinghouse on Blepharophimosis NICE Guidance on Blepharophimosis NHS PRODIGY Guidance FDA on Blepharophimosis CDC on Blepharophimosis
Books
Books on Blepharophimosis
News
Blepharophimosis in the news Be alerted to news on Blepharophimosis News trends on Blepharophimosis
Commentary
Blogs on Blepharophimosis
Definitions
Definitions of Blepharophimosis
Patient Resources / Community
Patient resources on Blepharophimosis Discussion groups on Blepharophimosis Patient Handouts on Blepharophimosis Directions to Hospitals Treating Blepharophimosis Risk calculators and risk factors for Blepharophimosis
Healthcare Provider Resources
Symptoms of Blepharophimosis Causes & Risk Factors for Blepharophimosis Diagnostic studies for Blepharophimosis Treatment of Blepharophimosis
Continuing Medical Education (CME)
CME Programs on Blepharophimosis
International
Blepharophimosis en Espanol Blepharophimosis en Francais
Business
Blepharophimosis in the Marketplace Patents on Blepharophimosis
Experimental / Informatics
List of terms related to Blepharophimosis

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Overview

Blepharophimosis is a condition where the patient has bilateral ptosis with reduced lid size. 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. In addition to small palpebral fissures, features include epicanthus inversus (fold curving in the mediolateral direction, inferior to the inner canthus), low nasal bridge, and ptosis of the eyelids. 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.

External links

Description of surgical steps in blepharophimosis Links to support groups for blepharophimosis

Template:Congenital malformations and deformations of eye, ear, face and neck