Oculodental syndrome, Rutherfurd type
Synonyms: Gingival hypertrophy-corneal dystrophy · Rutherfurd syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
Oculodental syndrome, Rutherfurd type is a rare genetic disorder that is primarily characterized by the classical triad of gingival fibromatosis, non-eruption of tooth and corneal dystrophy (bilateral corneal vascularization and opacity). Abnormally shaped teeth have also been reported. The syndrome is transmitted as an autosomal dominant trait.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Oculodental syndrome, Rutherfurd type | Gingival hypertrophy-corneal dystrophy · Rutherfurd syndrome |
| fr | Syndrome oculo-dentaire de Rutherfurd | Hypertrophie gingivale-dystrophie cornéenne · Syndrome de Rutherfurd |
| de | Okulo-dentales Syndrom Typ Rutherfurd | Gingivahypertrophie - Hornhautdystrophie · Rutherfurd-Syndrom |
| es | Síndrome óculo-dental tipo Rutherfurd | Hipertrofia gingival-distrofia corneal · Síndrome de Rutherfurd |
| it | Sindrome oculodentale, tipo Rutherfurd | Ipertrofia gengivale - distrofia corneale · Sindrome di Rutherfurd |
| nl | Oculodentaal syndroom, Rutherfurd-type | Gingivale hypertrofie - corneadystrofie · Rutherfurdsyndroom |
| pt | Síndrome oculo-dentária, tipo Rutherfurd | Hipertrofia gengival-distrofia da córnea · Síndrome Rutherfurd |
| pl | Zespół oczno-zębowy, typ Rutherfurda | Przerost dziąseł - dystrofia rogówki · Zespół Rutherfurda |
| cs | Okulodentální syndrom, typ Rutherfurdové | Gingivální hypertrofie, korneální dystrofie · Rutherfurdové syndrom |
| uk | Окулодентальний синдром, тип Рутерфурда | Гіпертрофія ясен - дистрофія рогівки · Синдром Резерфорда |
| zh | 眼齿综合征，Rutherfurd型 | 牙龈肥大-角膜营养不良 |
| tr | Okülodental sendrom, Rutherfurd tipi | Rutherfurd sendromu · Dişeti hipertrofisi-korneal distrofi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 180900 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | 9A70.Y | NTBT | index | validated |
| MONDO | 0008396 | E | validated | |
| MeSH | C537732 | E | validated | |
| UMLS | C0796140 | E | validated | |
| GARD | 212 | 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:98628Syndromic corneal dystrophy
rare genetic diseases; rare ophthalmic disorders
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 | 1 families | Worldwide | Family(ies) | Validated | 25714557[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25714557[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
8 annotations · validated 2025-03-20| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001131 | Corneal dystrophy | |
| HP:0000684 | Delayed eruption of teeth | |
| HP:0000169 | Gingival fibromatosis | |
| HP:0000212 | Gingival overgrowth | |
| Frequent (79-30%) | ||
| HP:0006482 | Abnormal dental morphology | |
| HP:0007957 | Corneal opacity | |
| HP:0005216 | Impaired mastication | |
| HP:0000505 | Visual impairment | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 26818898[PMID]_25714557[PMID]_18793596[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2709
- This record as JSON: /data/d/2709.json