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Genetic and Rare Diseases Information Center (GARD)

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Harlequin syndrome


Other Names for this Disease

  • Sudden onset of unilateral flushing and sweating
  • Unilateral loss of facial flushing and sweating with contralateral anhidrosis
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Your Question

My daughter was diagnosed with Harlequin syndrome as an infant. At first the frequency of her face getting flush would be rare, however now that she is a lot more active it seems to happen more, and she does not have to be doing anything as far as activity goes. Will this continue to the point that her face will never be plain? Is it possible that she feels it? She will lightly hit her face sometimes as is starts to get red. Is there a treatment? How rare is this? Is it genetic or is it a development of nerves as she grew in my womb?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

Is Harlequin syndrome a progressive disease? Can the facial flushing become constant?

Signs and symptoms of Harlequin syndrome very rarely progress. The syndrome tends to have a stable course.[1] We were unable to find a case report describing an individual with Harlequin syndrome that experienced constant facial flushing.  
Last updated: 12/28/2012

Is Harlequin syndrome genetic or does it occur secondary to an abnormality in embryonic/fetal development?

Harlequin syndrome is not a genetic disorder.  Most cases are thought to occur when nerve bundles (particularly ones in the face and neck) are injured. In many cases, the cause of the injury is unknown. However, individual cases of Harlequin syndrome have been reported in association with: trauma, tumor, stroke, autoimmune disease (multiple sclerosis), syringomyelia, hygroma, neurinoma, optic neuritis, and parasomnia. Signs and symptoms of Harlequin syndrome may overlap with those of Ross syndrome, Adie syndrome, and Horner's syndrome.[2][1]
Last updated: 12/28/2012

Do people with Harlequin syndrome feel a sensation when their face begins to flush?

Yes. People with Harlequin syndrome may feel a sensation with facial flushing.
Last updated: 12/28/2012

How rare is Harlequin syndrome?

We are not aware of a prevalence or incidence estimate for Harlequin syndrome. It is generally considered a rare condition due to the paucity of case reports. 
Last updated: 12/28/2012

References
  • Pavone P, Praticò AD, Micali G, Greco F, Ruggieri M, Pavone L. Autonomic Dysfunction Manifesting With Asymmetric Face Flushing and Paroxysmal Nonconvulsive Episodes. J Child Neurol. 2012 Oct 30; http://www.ncbi.nlm.nih.gov/pubmed?term=23112241. Accessed 12/28/2012.
  • Tascilar N et al.,. Unnoticed dysautonomic syndrome of the face: Harlequin syndrome. Autonomic Neuroscience: Basic and Clinical. 2007;137:1-9; http://www.ncbi.nlm.nih.gov/pubmed?term=17569597. Accessed 12/28/2012.
Other Names for this Disease
  • Sudden onset of unilateral flushing and sweating
  • Unilateral loss of facial flushing and sweating with contralateral anhidrosis
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.