ORPHA:71272
Sandifer syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adult, Childhood, Infancy
- Status
- active
Sandifer syndrome is a paroxysmal dystonic movement disorder occurring in association with gastro-oesophageal reflux, and, in some cases, hiatal hernia.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Sandifer syndrome | |
| fr | Syndrome de Sandifer | |
| de | Sandifer-Syndrom | |
| es | Síndrome de Sandifer | |
| it | Sindrome di Sandifer | |
| nl | Syndroom van Sandifer | |
| pt | Síndrome de Sandifer | |
| pl | Zespół Sandifera | |
| cs | Sandiferův syndrom | |
| uk | Синдром Сандіфера | |
| zh | Sandifer综合征 | |
| tr | Sandifer sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | G24.8 | NTBT | attributed | validated |
| ICD-11 | 8A02.2 | NTBT | attributed | validated |
| MONDO | 0019104 | E | validated | |
| MeSH | C537234 | E | validated | |
| UMLS | C0338465 | E | validated | |
| GARD | 9684 | E | validated | |
| MedDRA | 10066142 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:101936Rare gastroesophageal disease
rare gastroenterological diseases - ORPHA:306768Rare paroxysmal movement disorder
rare neurological diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
13 annotations · validated 2018-11-21| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002457 | Abnormal head movements | |
| HP:0002533 | Abnormal posturing | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0000473 | Torticollis | |
| Frequent (79-30%) | ||
| HP:0012547 | Abnormal involuntary eye movements | |
| HP:0001903 | Anemia | |
| HP:0004637 | Decreased cervical spine mobility | |
| HP:0410019 | Epigastric pain | |
| HP:0100633 | Esophagitis | |
| HP:0011968 | Feeding difficulties | |
| HP:0002248 | Hematemesis | |
| HP:0002036 | Hiatus hernia | |
| Occasional (29-5%) | ||
| HP:0002572 | Episodic vomiting | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 855842[PMID]_16614981[PMID]_26697813[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/71272
- This record as JSON: /data/d/71272.json