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

Diseases

Genetic and Rare Diseases Information Center (GARD)

Ascher Syndrome


Other Names for this Disease
  • Double upper lip, blepharochalasis and enlargement of the thyroid
  • Ascher's syndrome
  • Blepharochalasis - double lip
  • Blepharochalasis and double lip
  • Blepharochalasis-double lip syndrome
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

Ascher syndrome is a rare condition characterized by a combination of episodic edemea or swelling of the eyelids (blepharochalasia), double lip, and nontoxic thyroid enlargement (goiter).[1][2] The underlying cause of this condition is unknown.[2] Most cases are sporadic, but familial cases suggestive of autosomal dominant inheritance have also been reported. The condition is often undiagnosed due to its rarity.[1][2] Treatment may include surgical excision of the double lip and/or surgery for eyelid edema.[2] 
Last updated: 2/29/2016

References

  1. Ascher syndrome. Orphanet. April 2015; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1253.
  2. Ramesh BA. Ascher syndrome: Review of literature and case report. Indian J Plast Surg. 2011 Jan-Apr; 44(1):147-149. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3111109/.
GARD Video Tutorials
GARD Video Tutorials
Learn how to find information on treatment, research, specialists, and more.
Contact GARD
Contact GARD
Contact a GARD Information Specialist with your questions about this condition.

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. 
  • 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 Ascher Syndrome. Click on the link to view a sample search on this topic.

Selected Full-Text Journal Articles

Other Names for this Disease
  • Double upper lip, blepharochalasis and enlargement of the thyroid
  • Ascher's syndrome
  • Blepharochalasis - double lip
  • Blepharochalasis and double lip
  • Blepharochalasis-double lip syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.