Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome
historical
Synonyms: SEMDAD
- Type
- Disease
- Group
- Disorder
- Age of onset
- Infancy
- Status
- historical
Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome is a rare primary bone dysplasia disorder characterized by the association of dental anomalies (oligodontia with pointed incisors) and generalized platyspondyly with epiphyseal and metaphyseal involvement. Thin tapering fingers and accentuated palmar creases are additional features.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome | SEMDAD |
| fr | Syndrome de dysplasie spondylo-épimétaphysaire-dentition anormale | = en |
| de | Dysplasie, spondyloepimetaphysäre, mit gestörter Zahnentwicklung | = en |
| es | Síndrome de displasia espondiloepimetafisaria-dentición anómala | = en |
| it | Sindrome displasia spondiloepimetafisaria-anomalie della dentizione | = en |
| nl | Spondylo-epimetafysaire dysplasie - abnormale dentitie-syndroom | = en |
| pt | Síndrome de displasia espondiloepimetafisária-dentição anómala | = en |
| pl | Dysplazja kręgowo-nasadowo-przynasadowa - nieprawidłowe uzębienie | = en |
| cs | Syndrom zahrnující spondyloepimetafyzární dysplázii a abnormální dentici | = en |
| uk | Синдром спондилоепіметафізарної дисплазії-аномального зубного ряду | = en |
| zh | 脊柱干骺端发育不良-异常牙列综合征 | |
| tr | Spondiloepimetafizyal displazi-anormal dişlenme sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 601668 | E | validated | |
| ICD-10 | Q77.7 | NTBT | attributed | validated |
| ICD-11 | LD24.3 | NTBT | index | validated |
| MONDO | 0011124 | E | validated | |
| UMLS | C1866507 | 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 (1):
- ORPHA:253Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone 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 | 9018411[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_9018411[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/168451
- This record as JSON: /data/d/168451.json