Harlequin syndrome
Synonyms: Progressive isolated segmental anhidrosis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- All ages
- Status
- active
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.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Harlequin syndrome | Progressive isolated segmental anhidrosis |
| fr | Syndrome de Harlequin | Anhidrose segmentaire progressive isolée |
| de | Harlequin-Syndrom | Progressive isolierte segmentale Anhidrose |
| es | Síndrome del arlequín | Anhidrosis segmentaria progresiva aislada |
| it | Sindrome di Arlecchino | Anidrosi segmentale isolata progressiva |
| nl | Harlekijnsyndroom | Progressieve geïsoleerde segmentale anhidrose |
| pt | Síndrome de Harlequin | |
| pl | Zespół Harlequina | Postępująca izolowana anhydroza odcinkowa |
| cs | Harlekýn syndrom | Progresivní izolovaná segmentální anhidróza |
| uk | Синдром арлекіна | Прогресуючий ізольований сегментарний ангідроз |
| zh | 丑角综合征 | 进行性孤立阶段性无汗症 |
| tr | Harlequin sendromu | İlerleyici izole segmental anhidroz |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | G90.8 | NTBT | attributed | validated |
| ICD-11 | EE01.0 | NTBT | index | validated |
| MONDO | 0016040 | E | validated | |
| MeSH | C535634 | E | validated | |
| UMLS | C2029348 | E | validated | |
| GARD | 8610 | E | validated | |
| MedDRA | 10076575 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:423662Rare autonomic nervous system disorder
rare neurological diseases - ORPHA:434786Rare genetic autonomic nervous system disorder
rare genetic diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 100 cases | Worldwide | Case(s) | Validated | 28018464[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_28018464[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
12 annotations · validated 2025-12-03| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0000970 | Anhidrosis | |
| HP:0033850 | Coldness | |
| HP:0031284 | Flushing | |
| HP:0002277 | Horner syndrome | |
| HP:0000980 | Pallor | |
| Occasional (29-5%) | ||
| HP:0012199 | Cluster headache | |
| HP:0009926 | Epiphora | |
| HP:0000616 | Miosis | |
| HP:0031417 | Rhinorrhea | |
| HP:0007687 | Unilateral ptosis | |
| Excluded (0%) | ||
| HP:0004302 | Functional motor deficit | |
| HP:0000763 | Sensory neuropathy | |
Annotation source: 35593814[PMID]_26943985[PMID]_35888657[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/199282
- This record as JSON: /data/d/199282.json