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harlequin syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

harlequin syndrome

MONDO:0016040

Also known as:progressive isolated segmental anhidrosissudden onset of unilateral flushing and sweatingunilateral loss of facial flushing and sweating with contralateral anhidrosis

Overview

Harlequin syndrome (HSD) is an autonomic disorder occurring at any age and characterized by unilateral flushing and sweating, involving the face and sometimes arm and chest, in condition of thermal, exercise or emotional stress without sympathetic ocular manifestations. However, tonic pupils, parasympathetic oculomotor lesion and pre- or postganglionic sudomotor sympathetic deficit can rarely occur.

Diagnosis

Biomarker and diagnostic research for harlequin syndrome has been reported in the published literature.

Prognosis

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for harlequin syndrome.

37 publications have been identified in PubMed for harlequin syndrome. Research spans Case Report / Case Series (73%), Review / Meta-Analysis (11%), and Diagnostic / Biomarker (8%).

Research Type	Count	% of Total
Patient case studies	27	73%

Data assembled from 3 of 12 sources · Last updated Sep 19, 2026, 1:05 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:199282

GARD

Genetic and Rare Diseases Info Center

GARD:8610

Questions for Your Care Team

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harlequin syndrome

Overview

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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