Blepharophimosis

Common Name(s)

Blepharophimosis

Blepharophimosis is a rare condition characterized by problems with the eyes (eyeball and eyelid position) and nose (nose bridge). Individuals with this condition have drooping eyelids and misaligned eyeballs, as well as a flattened nose bridge. Hence, individuals may have problems with vision and breathing. The condition is also often diagnosed during childhood. Doctors diagnose this condition based on physical examinations. Treatment is based on a case-by-case basis and depends on the specific needs of the patient. Eye and nose specialists may suggest individuals undergo surgery to fix problems to help with seeing and breathing.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Blepharophimosis" for support, advocacy or research.

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Blepharophimosis, Ptosis, Epicanthus Inversus Family Network

Blepharophimosis, Ptosis, Epicanthus Inversus Family Network supports individuals with these conditions.

Last Updated: 24 Nov 2009

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General Support Organizations

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Blepharophimosis" for support, advocacy or research.

Logo
Blepharophimosis, Ptosis, Epicanthus Inversus Family Network

Blepharophimosis, Ptosis, Epicanthus Inversus Family Network supports individuals with these conditions.

Last Updated: 24 Nov 2009

View Details

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Blepharophimosis" returned 47 free, full-text research articles on human participants. First 3 results:

Identification of the forkhead transcriptional factor 2 (FOXL2) gene mutations in four Chinese families with blepharophimosis syndrome.
 

Author(s): Li Zhang, Liming Wang, Ruifang Han, Lifang Guan, Baohong Fan, Mingmei Liu, Ming Ying, Hao Peng, Ningdong Li

Journal:

 

To determine the genetic origin of disease in four Chinese families with blepharophimosis syndrome.

Last Updated: 22 Nov 2013

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Differential apoptotic and proliferative activities of wild-type FOXL2 and blepharophimosis-ptosis-epicanthus inversus syndrome (BPES)-associated mutant FOXL2 proteins.
 

Author(s): Jae-Hong Kim, Jeehyeon Bae

Journal: J. Reprod. Dev.. 2014 Mar;60(1):14-20.

 

FOXL2 is an essential transcription factor that is required for proper development of the ovary and eyelid. Mutations in FOXL2 cause an autosomal dominant genetic disorder, blepharophimosis-ptosis-epicanthus inversus syndrome (BPES). BPES type I patients have eyelid malformation and ...

Last Updated: 11 Mar 2014

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Single-stage surgery for Blepharophimosis syndrome.
 

Author(s): Kasturi Bhattacharjee, Harsha Bhattacharjee, Ganesh Kuri, Zeenat Tajmin Shah, Nilutparna Deori

Journal: Indian J Ophthalmol. 2013 Jul;61(7):369-70.

 

Last Updated: 30 Jul 2013

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Blepharophimosis" returned 2 free, full-text review articles on human participants. First 3 results:

Wakayama Symposium: Notch-FoxL2-α-SMA axis in eyelid levator muscle development and congenital blepharophimosis.
 

Author(s): Chia-Yang Liu

Journal: Ocul Surf. 2012 Oct;10(4):221-3.

 

This review summarizes our recent findings regarding the Notch signaling pathway in regulating normal eyelid morphogenesis and its role in the pathogenesis of human congenital blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES). We used genetic and molecular biological ...

Last Updated: 22 Oct 2012

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A novel case of unilateral blepharophimosis syndrome and mental retardation associated with de novo trisomy for chromosome 3q.
 

Author(s): T Cai, D A Tagle, X Xia, P Yu, X X He, L Y Li, J H Xia

Journal: J. Med. Genet.. 1997 Sep;34(9):772-6.

 

We have evaluated a 3 2/12 year old girl who presented with unilateral blepharophimosis, ptosis of the eyelid, and mental retardation. Additional dysmorphic features include microcephaly, high, narrow forehead, short stubby fingers, and adduction of the right first toe. Cytogenetic ...

Last Updated: 15 Jan 1998

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.