Otodental syndrome
Synonyms: Globodontia · Otodental dysplasia
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood
- Status
- active
Otodental syndrome is a very rare inherited condition characterized by grossly enlarged canine and molar teeth (globodontia) associated with sensorineural hearing loss.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Otodental syndrome | Globodontia · Otodental dysplasia |
| fr | Syndrome oto-dentaire | Dysplasie oto-dentaire · Globodontie |
| de | Oto-dentales Syndrom | Dysplasie, oto-dentale · Globodontie |
| es | Síndrome otodental | Displasia otodental · Globodontia |
| it | Sindrome otodentale | Displasia otodentale · Globodontia |
| nl | Otodentaal syndroom | Globodontie · Otodentale dysplasie |
| pt | Síndrome oto-dentária | Displasia oto-dentária · Globodontia |
| pl | Zespół uszno-zębowy | Dysplazja uszno-zębowa · Globodoncja |
| cs | Otodentální syndrom | Globodoncie · Otodentální dysplázie |
| uk | Отодентальний синдром | Глободонтія · Отодентальна дисплазія |
| zh | 耳牙综合征 | 耳牙发育不良 |
| tr | Otodental sendrom | Globodonti · Otodental displazi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 166750 | E | validated | |
| ICD-10 | K00.2 | NTBT | attributed | validated |
| ICD-11 | LA30.4 | NTBT | index | validated |
| MONDO | 0008161 | E | validated | |
| MeSH | C563482 | E | validated | |
| UMLS | C1833693 | E | validated | |
| GARD | 4168 | 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 (3):
- 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 - ORPHA:262092Partial deletion of the long arm of chromosome 11 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FGF3 | Role in the phenotype of | Assessed | HGNC:3681 | ENSG00000186895 | 164950 | 11q13.3 | fibroblast growth factor 3 | 17656375[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 10 families | Worldwide | Family(ies) | Validated | 16722606[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | 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.
HPO phenotypes
26 annotations · validated 2017-11-27| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0011078 | Abnormality of canine | |
| HP:0011070 | Abnormality of molar morphology | |
| HP:0006479 | Abnormality of the dental pulp | |
| HP:0000670 | Carious teeth | |
| HP:0000408 | Progressive sensorineural hearing impairment | |
| Frequent (79-30%) | ||
| HP:0000682 | Abnormality of dental enamel | |
| HP:0000326 | Abnormality of the maxilla | |
| HP:0011051 | Agenesis of premolar | |
| HP:0000463 | Anteverted nares | |
| HP:0000684 | Delayed eruption of teeth | |
| HP:0000293 | Full cheeks | |
| HP:0000212 | Gingival overgrowth | |
| HP:0001757 | High-frequency sensorineural hearing impairment | |
| HP:0000276 | Long face | |
| HP:0000343 | Long philtrum | |
| HP:0000704 | Periodontitis | |
| HP:0003771 | Pulp calcification | |
| HP:0000679 | Taurodontia | |
| Occasional (29-5%) | ||
| HP:0000518 | Cataract | |
| HP:0000612 | Iris coloboma | |
| HP:0100719 | Lens coloboma | |
| HP:0000482 | Microcornea | |
| HP:0000568 | Microphthalmia | |
| HP:0011068 | Odontoma | |
| HP:0031353 | Otitis media with effusion | |
| HP:0000480 | Retinal coloboma | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 16722606[PMID]_28151902[PMID]_11552150[PMID]_12147582[PMID]_7227680[PMID]_1175318[PMID]_6585292[PMID]_5255997[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2791
- This record as JSON: /data/d/2791.json