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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
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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/.
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In Depth Information

  • 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.