Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Print friendly version

Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1


Other Names for this Disease
  • Blepharophimosis syndrome type 1
  • Blepharophimosis, ptosis, epicanthus inversus with ovarian failure
  • BPES type 1
  • BPES with premature ovarian failure
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview


Blepharophimosis, ptosis and epicanthus inversus syndrome type 1 (BPES I) is a condition, present at birth, that mainly effects the development of the eyelids.  People with this condition have narrowing of the eye opening (blepharophimosis), droopy eyelids (ptosis), an upward fold of the skin of the lower eyelid near the inner corner of the eye (epicanthus inversus), and an increased distance between the inner corners of the eyes (telecanthus).  Because of these eyelid malformations, the eyelids cannot open fully, and vision may be limited.  Blepharophimosis syndrome type 1 also causes premature ovarian failure (POF).  This condition is caused by mutations in the FOXL2 gene and is inherited in an autosomal dominant pattern.[1]
Last updated: 6/6/2011

References

  1. Blepharophimosis, ptosis, and epicanthus inversus syndrome. Genetics Home Reference. November, 2008; http://ghr.nlm.nih.gov/condition/blepharophimosis-ptosis-and-epicanthus-inversus-syndrome. Accessed 9/16/2010.
Your Questions Answered
by the Genetic and Rare Diseases Information Center

2 question(s) from the public on Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1 have been answered. See questions and answers. You can also submit a new question.

Basic Information

  • Genetics Home Reference (GHR) contains information on Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1. Click on the link to view a sample search on this topic.