National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Ascher Syndrome


Other Names:
Double upper lip, blepharochalasis and enlargement of the thyroid; Ascher's syndrome; Blepharochalasis - double lip; Double upper lip, blepharochalasis and enlargement of the thyroid; Ascher's syndrome; Blepharochalasis - double lip; Blepharochalasis and double lip ; Blepharochalasis-double lip syndrome See More
Categories:
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

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormality of upper lip 0000177
Blepharophimosis
Narrow opening between the eyelids
0000581
Upper eyelid edema
Fullness of upper eyelid
Puffiness of upper eyelid
Swelling of upper eyelid
[ more ] 		0012724
30%-79% of people have these symptoms
Goiter
Enlarged thyroid gland in neck
0000853
Hypothyroidism
Underactive thyroid
0000821
Ptosis
Drooping upper eyelid
0000508
Visual impairment
Impaired vision
Loss of eyesight
Poor vision
[ more ] 		0000505
5%-29% of people have these symptoms
Deviation of finger
Atypical position of finger
Finger pointing in a different direction than usual
[ more ] 		0004097
High palate
Elevated palate
Increased palatal height
[ more ] 		0000218
Hypertelorism
Wide-set eyes
Widely spaced eyes
[ more ] 		0000316
Wide nose
Broad nose
Increased breadth of nose
Increased nasal breadth
Increased nasal width
Increased width of nose
[ more ] 		0000445
Percent of people who have these symptoms is not available through HPO
Abnormality of the eye
Abnormal eye
0000478
Abnormality of the mouth
Abnormal mouth
0000153
Autosomal dominant inheritance 0000006
Blepharochalasis 0010749
Duplication of the upper lip 0040295
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Last updated: 7/1/2020

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

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.

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  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/.