Living with Harlequin syndrome
A condition of the autonomic nervous system in which one side of the face and body doesn't sweat or flush during exercise, heat, or strong emotion.
Understanding Harlequin syndrome
People lack sweating and flushing on one side of the body, especially the face, arms, and chest. It is more likely during exercise, warmth, or intense emotion, when one side sweats and flushes normally and the other does not. The uneven facial flushing is called the "Harlequin sign." It can occur at any time in life.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- No sweating on one side of the body
- Flushing on one side of the face
- Paleness or coldness on the other side
- Horner syndrome (small pupil and drooping eyelid on one side)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says the exact cause is not completely understood. Diagnosis involves tests to rule out other diseases associated with the Harlequin sign.
Also known as: progressive isolated segmental anhidrosis
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Harlequin syndrome.
Explore research for Harlequin syndrome
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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