Blepharophimosis

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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

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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

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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

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Commentary

Blogs on Blepharophimosis

Definitions

Definitions of Blepharophimosis

Patient Resources / Community

Patient resources on Blepharophimosis

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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. [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, 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. [2]

References

External links

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



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