{"orpha":199282,"name":"Harlequin syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Progressive isolated segmental anhidrosis"],"definition":"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.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-199282/","orphanet_url":"https://www.orpha.net/en/disease/detail/199282","names":{"fr":{"name":"Syndrome de Harlequin","synonyms":["Anhidrose segmentaire progressive isolée"],"definition":"Le syndrome de Harlequin est une maladie du système nerveux autonome survenant à n'importe quel âge et caractérisée par des épisodes de rougeur et de sueur unilatérales impliquant le visage et parfois les bras et le torse dans des conditions de stress émotionnel, physique ou thermique, sans manifestation sympathique oculaire. Cependant, dans de rares cas, des pupilles toniques peuvent être observées. Rarement, il peut y avoir des lésions oculomotrices parasympathiques et un déficit sympathique sudomoteur pré- ou post-ganglionique."},"de":{"name":"Harlequin-Syndrom","synonyms":["Progressive isolierte segmentale Anhidrose"],"definition":"Das Harlekin-Syndrom (HSD) ist eine Störung des vegetativen Systems, die in jedem Alter auftreten kann. Sie ist gekennzeichnet durch einseitiges Erröten und Schwitzen im Gesicht und manchmal an Armen und Thorax, das in warmer Umgebung oder bei körperlicher oder seelischer Belastung auftritt. Die Sympatikus-Innervation des Auges ist normal. Selten kann es jedoch zu Pupillentonus, zu parasympathischen okulo-motorischen Läsionen und zu prä- oder postganglionärem sudomotorischem sympathischem Defizit kommen."},"es":{"name":"Síndrome del arlequín","synonyms":["Anhidrosis segmentaria progresiva aislada"],"definition":"El síndrome del arlequín (HSD) es un trastorno autonómico que se produce a cualquier edad y se caracteriza por enrojecimiento y sudoración unilaterales, afectando a la cara y, a veces, brazos y pecho, en condiciones de estrés térmico, por ejercicio o emocional, con inervaciones simpáticas oculares normales. Sin embargo, pueden darse, con baja frecuencia: pupilas tónicas, lesiones oculomotoras parasimpáticas y déficit simpático sudomotor pre o postganglionar."},"it":{"name":"Sindrome di Arlecchino","synonyms":["Anidrosi segmentale isolata progressiva"],"definition":"La sindrome di Arlecchino (HSD) è una malattia del sistema autonomo che può insorgere a tutte le età e si caratterizza per la sudorazione e l'arrossamento monolaterali, che interessano la faccia e, a volte, il torace, in condizioni di stress emotivo, termico o dopo un esercizio fisico, in presenza di innervazioni simpatiche normali dell'occhio. Possono comunque essere presenti pupille toniche, lesioni parasimpatiche oculomotorie, e deficit simpatico pre- o post-angliare del sistema di regolazione delle ghiandole sudoripare."},"nl":{"name":"Harlekijnsyndroom","synonyms":["Progressieve geïsoleerde segmentale anhidrose"],"definition":"Een autonome aandoening die op elke leeftijd kan optreden, gekenmerkt door unilateraal blozen en zweten, met betrokkenheid van aangezicht en soms armen en borstkas, in omstandigheden van thermische, fysieke of emotionele stress, zonder sympathische oculaire manifestaties. In zeldzame gevallen kunnen echter tonische pupillen, parasympathische oculomotorische laesie, en pre- of postganglionaire sudomotorische sympathische stoornis optreden."},"pt":{"name":"Síndrome de Harlequin"},"pl":{"name":"Zespół Harlequina","synonyms":["Postępująca izolowana anhydroza odcinkowa"]},"cs":{"name":"Harlekýn syndrom","synonyms":["Progresivní izolovaná segmentální anhidróza"]},"uk":{"name":"Синдром арлекіна","synonyms":["Прогресуючий ізольований сегментарний ангідроз"],"definition":"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."},"zh":{"name":"丑角综合征","synonyms":["进行性孤立阶段性无汗症"],"definition":"丑角综合征（HSD）是一种发生在任何年龄段的自主神经系统疾病，其主要临床表现为面部单侧潮红和出汗，有时累及手臂和胸部，无眼部交感神经症状。很少发生强直性瞳孔、副交感神经动眼神经病变和节前或节后促汗交感神经缺损。"},"tr":{"name":"Harlequin sendromu","synonyms":["İlerleyici izole segmental anhidroz"]}},"xrefs":[{"source":"ICD-10","code":"G90.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EE01.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1195658403"},{"source":"MONDO","code":"0016040","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535634","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2029348","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8610","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10076575","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":423662,"name":"Rare autonomic nervous system disorder","classifications":[181]},{"orpha":434786,"name":"Rare genetic autonomic nervous system disorder","classifications":[156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["All ages"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":100.0,"area":"Worldwide","status":"Validated","source":"28018464[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_28018464[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2025-12-03","source":"35593814[PMID]_26943985[PMID]_35888657[PMID]","terms":[{"hpo":"HP:0000970","label":"Anhidrosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0033850","label":"Coldness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031284","label":"Flushing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002277","label":"Horner syndrome","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000980","label":"Pallor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012199","label":"Cluster headache","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009926","label":"Epiphora","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000616","label":"Miosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031417","label":"Rhinorrhea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007687","label":"Unilateral ptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004302","label":"Functional motor deficit","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0000763","label":"Sensory neuropathy","frequency":"Excluded (0%)","criteria":null}]}}