Cleft palate-stapes fixation-oligodontia syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
A rare congenital malformation syndrome characterized by cleft soft palate, severe oligodontia of the deciduous teeth, absence of the permanent dentition, bilateral conductive deafness due to fixation of the footplate of the stapes, short halluces with a wide space between the first and second toes, and fusion of carpal and tarsal bones. There have been no further descriptions in the literature since 1971.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Cleft palate-stapes fixation-oligodontia syndrome | |
| fr | Syndrome de fente palatine-anomalies carpo-tarsales-oligodontie | |
| de | Gaumenspalte-Stapes-Fixation-Oligodontie-Syndrom | |
| es | Síndrome de paladar hendido-fijación del estribo-oligodoncia | |
| it | Schisi palatina - anomalie carpotarsali - oligodontia | |
| nl | Gespleten gehemelte - stijgbeugelfixatie - oligodontie-syndroom | |
| pt | Síndrome de fenda palatina-fixação do estribo-oligodontia | |
| pl | Rozszczep podniebienia - unieruchomienie strzemiączka - oligodoncja | |
| cs | Syndrom zahrnující rozštěp patra, fixaci třmínku a oligodoncii | |
| uk | Синдром розщілини піднебіння-фіксації стремінця-олігодонтії | |
| zh | 腭裂-镫骨固定-少牙畸形综合征 | |
| tr | Yarık damak-üzengi kemiği fiksasyonu-oligodonti sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 216300 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0008993 | E | validated | |
| UMLS | C4304738 | E | validated | |
| GARD | 1393 | 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: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.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 5173249[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_5173249[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
9 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003028 | Abnormality of the ankles | |
| HP:0000413 | Atresia of the external auditory canal | |
| HP:0008513 | Bilateral conductive hearing impairment | |
| HP:0000175 | Cleft palate | |
| HP:0012225 | Oligodontia of primary teeth | |
| HP:0008368 | Tarsal synostosis | |
| HP:0000506 | Telecanthus | |
| Frequent (79-30%) | ||
| HP:0003019 | Abnormality of the wrist | |
| HP:0009702 | Carpal synostosis | |
Run the differential on the 7 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2010
- This record as JSON: /data/d/2010.json