Spondyloepimetaphyseal dysplasia, Isidor-Toutain type
Synonyms: SEMDIST · Spondyloepimetaphyseal dysplasia with severe short stature
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare primary bone dysplasia disorder characterized by normal birth length with early postnatal growth deficiency resulting in severe disproportionate short stature (with short trunk and limbs), severe genu varum, flexion contractures in the hips and lumbar hyperlordosis. Radiological findings reveal platyspondyly with central indentation of vertebral endplates, progressive and severe epimetaphyseal abnormalities that primarily affect the lower limbs and include very small, irregular proximal femoral and knee epiphyses, severe coxa vara, delayed ossification of proximal femoral epiphyses, and irregular distal femoral and proximal tibial metaphyses.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Spondyloepimetaphyseal dysplasia, Isidor-Toutain type | SEMDIST · Spondyloepimetaphyseal dysplasia with severe short stature |
| fr | Dysplasie spondylo-épimétaphysaire type Isidor-Toutain | Syndrome de dysplasie spondylo-épimétaphysaire-petite taille sévère |
| de | Dysplasie, spondyloepimetaphysäre, Typ Isidor-Toutain | SEMDIST · Spondyloepimetaphysäre Dysplasie mit starkem Kleinwuchs |
| es | Displasia espondiloepimetafisaria tipo Isidor-Toutain | Displasia espondiloepimetafisaria con talla baja extrema · SEMDIST |
| it | Displasia spondiloepimetafisaria, tipo Isidor-Toutain | Displasia spondiloepimetafisaria con statura notevolmente bassa · SEMDIST |
| nl | Spondylo-epimetafysaire dysplasie, Isidor-Toutain-type | SEMDIST · Spondylo-epimetafysaire dysplasie met ernstige kleine gestalte |
| pt | Displasia espondilometafisária, tipo Isidor | Displasia espondiloepimetafisária com baixa estatura grave |
| pl | Dysplazja kręgowo-nasadowo-przynasadowa typu Isidora | = en |
| cs | Spondyloepimetafyzární dysplázie, typ Isidor | = en |
| uk | Спондилоепіметафізарна дисплазія, тип Ісидора-Тутена | SEMDIST · Спондилоепіметафізарна дисплазія з вираженою низькорослістю |
| zh | Isidor型脊柱-上肢-干骺端发育不良 | |
| tr | Spondiloepimetafizyal displazi, Isidor tipi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 618728 | E | validated | |
| ICD-10 | Q77.7 | NTBT | attributed | validated |
| ICD-11 | LD24.3 | NTBT | attributed | validated |
| MONDO | 0018254 | E | validated | |
| UMLS | C5231478 | 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.
Codes that Orphanet moved or referred to this one:
- ORPHA:642737OBSOLETE: Spondyloepimetaphyseal dysplasia with severe short stature referred to · inactive
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| RPL13 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:10303 | ENSG00000167526 | 113703 | 16q24.3 | ribosomal protein L13 | 31630789[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 23956136[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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/370015
- This record as JSON: /data/d/370015.json