ORPHA:2724
Odontomatosis-aortae esophagus stenosis syndrome
Synonyms: Bader syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- No data available
- Status
- active
Odontoma-dysphagia syndrome is a malformation syndrome, characterized by odontomas (undifferentiated mass of the esophagus) and severe dysphagia.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Odontomatosis-aortae esophagus stenosis syndrome | Bader syndrome |
| fr | Syndrome d'odontomatose-aorte-sténose oesophagienne | Syndrome de Bader |
| de | Odontomatose-Aorten- und Ösophagusstenose-Syndrom | Bader-Syndrom |
| es | Síndrome de odontomatosis-estenosis de la aorta esofágica | Síndrome de Bader |
| it | Odontomatosi - stenosi dell'aorta e dell'esofago | Sindrome di Boder |
| nl | Odontomatose - aortae esophagus stenosis-syndroom | Syndroom van Bader |
| pt | Síndrome de odontomatose-estenose da aorta e esófago | Síndrome Bader |
| pl | Zębiaki - zwężenie aorty zstępującej | Zespół Bodera |
| cs | Syndrom zahrnující odontomatózu a aortoezofageální stenózu | Boderův syndrom |
| uk | Синдром одонтоматозу- аорто-стравохідного стенозу | Синдром Бодера |
| zh | 多发性牙瘤-主动脉食道狭窄综合征 | Boder综合征 |
| tr | Odontomatoz-aort özofagus stenoz sendromu | Boder sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 164330 | E | validated | |
| ICD-10 | D16.5 | NTBT | attributed | validated |
| MONDO | 0008118 | E | validated | |
| MeSH | C537740 | E | validated | |
| UMLS | C1834013 | E | validated | |
| GARD | 238 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:183580Genetic malformation syndrome with odontal and/or periodontal component
rare genetic diseases - ORPHA:139042Malformation syndrome with odontal and/or periodontal component
rare developmental anomalies during embryogenesis; rare odontological diseases
No children.
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 4424740[PMID]_5229432[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_4424740[PMID]_5229432[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.
6
HPO phenotypes
6 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002621 | Atherosclerosis | |
| HP:0002015 | Dysphagia | |
| HP:0001399 | Hepatic failure | |
| HP:0011068 | Odontoma | |
| Occasional (29-5%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0012819 | Myocarditis | |
Run the differential on the 4 obligate / very frequent terms
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2724
- This record as JSON: /data/d/2724.json