Dentin dysplasia-sclerotic bones syndrome
historical
- Type
- Disease
- Group
- Disorder
- Age of onset
- Infancy
- Status
- historical
Dentin dysplasia-sclerotic bones syndrome is a rare, genetic odontologic disease characterized by the clinical, radiographic, and histologic features of dentine dysplasia and osteosclerosis of all long bones, with heavy cortical bone and narrowed or occluded marrow spaces. There have been no further descriptions in the literature since 1977.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Dentin dysplasia-sclerotic bones syndrome | |
| fr | Syndrome de dysplasie de la dentine-ostéosclérose | |
| de | Dentindysplasie-Knochensklerose-Syndrom | |
| es | Síndrome de displasia de la dentina-huesos escleróticos | |
| it | Sindrome da displasia della dentina e ossa sclerotiche | |
| nl | Dentinedysplasie - osteosclerose-syndroom | |
| pt | Síndrome de displasia da dentina-ossos escleróticos | |
| pl | Zespół dysplazji zębiny i sklerotyzacji kości | |
| cs | Syndrom zahrnující dentinovou dysplázii a sklerotické kosti | |
| uk | Синдром дисплазії дентину-кісткового склерозу | |
| zh | 牙本质发育不良-骨硬化综合征 | |
| tr | Dentin displazisi-sklerotik kemik sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 125440 | E | validated | |
| ICD-10 | K00.5 | NTBT | attributed | validated |
| ICD-11 | LA30.7 | NTBT | attributed | validated |
| MONDO | 0007438 | E | validated | |
| MeSH | C538213 | E | validated | |
| UMLS | C4749611 | E | validated | |
| GARD | 1808 | 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:98027Rare disease with odontological manifestation
rare odontological diseases - ORPHA:77830Rare genetic odontologic disease
rare genetic 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 | 1 families | Worldwide | Family(ies) | Validated | 264650[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_264650[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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/99792
- This record as JSON: /data/d/99792.json