Blepharophimosis
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| Blepharophimosis Classification and external resources | |
| OMIM | 110100 |
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| DiseasesDB | 33297 |
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WikiDoc Resources for Blepharophimosis | |
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Articles | |
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Most recent articles on Blepharophimosis Most cited articles on Blepharophimosis | |
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Media | |
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Powerpoint slides on Blepharophimosis | |
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Evidence Based Medicine | |
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Clinical Trials | |
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Ongoing Trials on Blepharophimosis at Clinical Trials.gov Trial results on Blepharophimosis Clinical Trials on Blepharophimosis at Google
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Guidelines / Policies / Govt | |
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US National Guidelines Clearinghouse on Blepharophimosis NICE Guidance on Blepharophimosis
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News | |
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Commentary | |
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Definitions | |
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Patient Resources / Community | |
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Patient resources on Blepharophimosis Discussion groups on Blepharophimosis Patient Handouts on Blepharophimosis Directions to Hospitals Treating Blepharophimosis Risk calculators and risk factors for Blepharophimosis
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Healthcare Provider Resources | |
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Causes & Risk Factors for Blepharophimosis | |
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Continuing Medical Education (CME) | |
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International | |
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Businness | |
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Experimental / Informatics | |
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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. [1]
References
External links
Description of surgical steps in blepharophimosis Links to support groups for blepharophimosis
Congenital malformations and deformations of eye, ear, face and neck (Q10-Q18, 743-744) | |
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| Eyes | eyelid, lacrimal apparatus and orbit: Ptosis - Ectropion - Entropion - Distichia - Blepharophimosis - Congenital lacrimal duct obstruction
entire eye: Anophthalmia - Microphthalmia lens: Ectopia lentis - Aphakia Aniridia - Axenfeld syndrome - Buphthalmos - Coloboma - Hydrophthalmos - Keratoglobus - Zazam Sheriff Phillips syndrome |
| Ears | Microtia |
| Other face and neck | Otocephaly - Webbed neck - Microstomia - Macrocheilia |
| See also non-congenital eye and ear | |
WikiDoc Research Resources for Blepharophimosis | |
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| Articles on Blepharophimosis | 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 (Slides, Video, Images, MP3) on Blepharophimosis | Powerpoint slides on Blepharophimosis • Images of Blepharophimosis • Photos of Blepharophimosis • Podcasts & MP3s on Blepharophimosis • Videos on Blepharophimosis |
| Evidence Based Medicine Regarding Blepharophimosis | Cochrane Collaboration on Blepharophimosis • Bandolier on Blepharophimosis • TRIP on Blepharophimosis |
| Cost Effectiveness of Blepharophimosis | Cost Effectiveness of Blepharophimosis |
| Clinical Trials Involving Blepharophimosis | Ongoing Trials on Blepharophimosis at Clinical Trials.gov • Trial results on Blepharophimosis • Clinical Trials on Blepharophimosis at Google |
| Guidelines / Policies / Government Resources (FDA/CDC) Regarding Blepharophimosis | US National Guidelines Clearinghouse on Blepharophimosis • NICE Guidance on Blepharophimosis • NHS PRODIGY Guidance • FDA on Blepharophimosis • CDC on Blepharophimosis |
| Textbook Information on Blepharophimosis | Books and Textbook Information on Blepharophimosis |
| Pharmacology Resources on Blepharophimosis | Dosing of Blepharophimosis • Drug interactions with Blepharophimosis • Side effects of Blepharophimosis • Allergic reactions to Blepharophimosis • Overdose information on Blepharophimosis • Carcinogenicity information on Blepharophimosis • Blepharophimosis in pregnancy • Pharmacokinetics of Blepharophimosis • |
| Genetics, Pharmacogenomics, and Proteinomics of Blepharophimosis | Genetics of Blepharophimosis • Pharmacogenomics of Blepharophimosis • Proteomics of Blepharophimosis |
| Newstories on Blepharophimosis | Blepharophimosis in the news • Be alerted to news on Blepharophimosis • News trends on Blepharophimosis |
| Commentary on Blepharophimosis | Blogs on Blepharophimosis |
| Patient Resources on Blepharophimosis | 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 on Blepharophimosis | Symptoms of Blepharophimosis • Causes & Risk Factors for Blepharophimosis • Diagnostic studies for Blepharophimosis • Treatment of Blepharophimosis |
| Continuing Medical Education (CME) Programs on Blepharophimosis | CME Programs on Blepharophimosis |
| International Resources on Blepharophimosis | Blepharophimosis en Espanol • Blepharophimosis en Francais |
| Business Resources on Blepharophimosis | Blepharophimosis in the Marketplace • Patents on Blepharophimosis |
| Informatics Resources on Blepharophimosis | List of terms related to Blepharophimosis |
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Acknowledgement and Attribution Regarding Sources of Content
Some of the initial content on this page may be incorporated in part from copyleft sources in the public domain including wikis such as Wikipedia and AskDrWiki. Drug information for patients came from the The National Library of Medicine. Infectious disease information may have come from the Centers for Disease Control (CDC). Differential Diagnoses are drawn from clinicians as well as an amalgamation of 3 sources: 1.The Disease Database; 2. Kahan, Scott, Smith, Ellen G. In A Page: Signs and Symptoms. Malden, Massachusetts: Blackwell Publishing, 2004:3; 3. Sailer, Christian, Wasner, Susanne. Differential Diagnosis Pocket. Hermosa Beach, CA: Borm Bruckmeir Publishing LLC, 2002:7 .

