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 46 free, full-text research articles on human participants. First 3 results:

Goldenhar syndrome with blepharophimosis and limb deformities: a case report.
 

Author(s): Xia Ding, Xi Wang, Yuan Cao, Jiaying Zhang, Ming Lin, Xianqun Fan, Jin Li

Journal:

 

Goldenhar syndrome has variable presentations and can affect multiple regions of the body. Diagnoses are based on clinical manifestations. The association of Goldenhar syndrome with blepharophimosis and limb deformities has not previously been reported. Here, we describe a patient ...

Last Updated: 31 Dec 1969

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A Novel FOXL2 Mutation Implying Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Type I.
 

Author(s): Fang Li, Peiwei Chai, Jiayan Fan, Xi Wang, Wenjuan Lu, Jin Li, Shengfang Ge, Renbing Jia, He Zhang, Xianqun Fan

Journal: Cell. Physiol. Biochem.. 2018 ;45(1):203-211.

 

Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare autosomal dominant disease caused by FOXL2 gene mutations, and it is clinically characterized by an eyelid malformation associated (type I) or not (type II) with premature ovarian failure (POF). Functional study ...

Last Updated: 31 Dec 1969

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Functional Analysis of a Novel FOXL2 Indel Mutation in Chinese Families with Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Type I.
 

Author(s): Peiwei Chai, Fang Li, Jiayan Fan, Ruobin Jia, He Zhang, Xianqun Fan

Journal:

 

: Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is an autosomal dominant disease with a low incidence rate. Indel mutations in the forkhead box L2 (FOXL2) gene cause two types of BPES that are distinguished by the presence (type I) or absence (type II) of premature ovarian ...

Last Updated: 31 Dec 1969

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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: 31 Dec 1969

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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: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.