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Diseases

Genetic and Rare Diseases Information Center (GARD)

Blepharophimosis, ptosis, and epicanthus inversus syndrome type 2


Other Names for this Disease
  • BPES type 2
  • Blepharophimosis, ptosis, and epicanthus inversus without premature ovarian failure
  • BPES without premature ovarian failure
  • Blepharophimosis syndrome type 2
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 2 (BPES II) is a condition that mainly affects the development of the eyelids. People with this condition have a narrowing of the eye opening (blepharophimosis), droopy eyelids (ptosis), and an upward fold of the skin of the lower eyelid near the inner corner of the eye (epicanthus inversus). In addition, there is 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. BPES type 2 consists only of the eyelid malformations, whereas  BPES type 1 also causes premature ovarian failure. It is caused by mutations in the FOXL2 gene and is inherited in an autosomal dominant manner.[1] Treatment typically consists of various eyelid surgeries to correct the malformations.[2]
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 6/6/2011.
  2. Elfride De Baere. Blepharophimosis, Ptosis, and Epicanthus Inversus. GeneReviews. July 8, 2004; http://www.ncbi.nlm.nih.gov/books/NBK1441/. Accessed 6/6/2011.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Blepharophimosis, ptosis, and epicanthus inversus syndrome type 2. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a 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. 
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Blepharophimosis, ptosis, and epicanthus inversus syndrome type 2. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • BPES type 2
  • Blepharophimosis, ptosis, and epicanthus inversus without premature ovarian failure
  • BPES without premature ovarian failure
  • Blepharophimosis syndrome type 2
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.