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  3. Horner's syndrome
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Horner's syndrome


Title




Other Names:
Bernard-Horner Syndrome; Oculosympathetic Palsy
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Summary Summary


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Horner's syndrome is a rare condition characterized by miosis (constriction of the pupil), ptosis (drooping of the upper eyelid), and anhidrosis (absence of sweating of the face).[1][2] It is caused by damage to the sympathetic nerves of the face. The underlying causes of Horner's syndrome vary greatly and may include a tumor, stroke, injury, or underlying disease affecting the areas surrounding the sympathetic nerves. In rare cases, Horner's syndrome is congenital (present from birth) and may be associated with a lack of pigmentation of the iris (colored part of the eye).[1][2][3] Treatment of Horner's syndrome depends on the underlying cause.[3]
Last updated: 1/3/2017

Symptoms Symptoms


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Symptoms of Horner's syndrome typically include drooping of the upper eyelid (ptosis), constriction of the pupil (miosis), sinking of the eyeball into the face, and decreased sweating on the affected side of the face (anhidrosis). These symptoms may vary and other symptoms may occur depending on the underlying cause of the condition.[1][2] Other symptoms which may be seen include the inability to completely close or open the eyelid, facial flushing, headaches, and pain.[2][3] 

Heterochromia iridium (i.e., a relative deficiency of pigment in the iris of affected side of the face) is usually present when the syndrome is congenital or caused by a lesion that has occurred before the age of 1-2 years of age.[3] 
Last updated: 1/3/2017

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.

Showing of 6 |
Medical Terms Other Names
Learn More:
HPO ID
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance 0000006
Congenital Horner syndrome 0006837
Deeply set eye
Deep set eye
Deep-set eyes
Sunken eye
[ more ]
0000490
Heterochromia iridis
Different colored eyes
0001100
Ipsilateral lack of facial sweating 0007451
Paralysis
Inability to move
0003470
Showing of 6 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 2/1/2021
Do you have updated information on this disease? We want to hear from you.

Cause Cause


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There are many potential causes of Horner's syndrome. It can be caused by any interruption in function of the sympathetic nerve fibers, which start in the hypothalamus and run via the upper spinal cord, near the carotid artery, to the face. Nerve function may be impaired due to factors such as injury, compression, or a disease process. Examples of causes of Horner's syndrome include:[1][2][3][4]
  • Birth trauma to the neck and shoulder.
  • A stroke in the brainstem.
  • Injury, blood clot, or dissection of the carotid artery.
  • Trauma or surgery involving the neck, upper spinal cord, or chest.
  • A tumor in the brainstem, hypothalamus, upper spinal cord, neck, eye, abdomen, or chest cavity - particularly a neuroblastoma or a tumor of the upper part of the lung (Pancoast tumor). Neuroblastoma is one of the most common causes of Horner's syndrome in children.
  • Migraines or cluster headaches.
  • Diseases that cause damage to the protective covering that surrounds nerve fibers (demyelinating diseases).
  • Development of a fluid-filled cavity or cyst within the spinal cord (syringomyelia).
  • Arnold-Chiari malformation.
  • Inflammation or growths that affect the lymph nodes of the neck.
Last updated: 10/16/2018

Diagnosis Diagnosis


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An ophthalmologist may confirm the diagnosis by special eye tests.[5] In addition, a careful neurological exam may be necessary to find the cause by determining which, if any, other parts of the nervous system are affected. Tests may include[1]:
  • MRI of the head
  • Carotid ultrasound
  • Chest x-ray
  • CT scan of the chest
  • Blood tests
  • Angiogram
  • Eye drop tests
Last updated: 1/3/2017

Treatment Treatment


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Treatment depends on the underlying cause. There is no specific treatment for Horner's syndrome itself.[1] In many cases, no effective treatment is known.[3]
Last updated: 1/3/2017

Find a Specialist Find a Specialist


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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

  • To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from MedlinePlus Genetics.

Research Research


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Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • The Centers for Mendelian Genomics program is working to discover the causes of rare genetic disorders. For more information about applying to the research study, please visit their website.
  • ClinicalTrials.gov lists trials that are related to Horner's syndrome. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Organizations Organizations


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Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Social Networking Websites

  • Visit the Ross, Harlequin, Holmes-Adie and Horner's Syndrome group on Facebook.
Do you know of an organization? We want to hear from you.

Learn More Learn More


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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.

Where to Start

  • MayoClinic.com offers additional information about Horner syndrome. Click on the above link to access this information.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • Genetics Home Reference contains information on Horner's syndrome. 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

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • 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 Horner's syndrome. Click on the link to view a sample search on this topic.

GARD Answers GARD Answers


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Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

Have a question? Contact a GARD Information Specialist.

References References


  1. Horner syndrome. MedlinePlus. May 30, 2016; http://www.nlm.nih.gov/medlineplus/ency/article/000708.htm.
  2. Horner's syndrome. National Organization for Rare Disorders (NORD). 2003; https://rarediseases.org/rare-diseases/horners-syndrome/.
  3. Bardorf, CM. Horner Syndrome. Medscape. May 17, 2016; http://emedicine.medscape.com/article/1220091.
  4. Kedar S, Biousse V, Newman NJ. Horner syndrome. UpToDate. Waltham, MA: UpToDate; June 19, 2018; https://www.uptodate.com/contents/horner-syndrome.
  5. Dennis Robertson. Horner syndrome: What causes it?. MayoClinic.com. May 06, 2014; http://www.mayoclinic.org/diseases-conditions/horner-syndrome/basics/definition/con-20034650.
Do you know of a review article? We want to hear from you.
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rare disease research!
You can help advance rare disease research!
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