Regressive spondylometaphyseal dysplasia
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
A rare, primary bone dysplasia characterized by mild short stature, rhizomelic shortening of the arms and legs, bowing of long bones with widened and irregular metaphyses, thoracolumbar kyphosis, and metacarpal shortening. A marked improvement of the radiologic skeletal features is typical. Pelger-Huet anomaly (i.e. dumbbell shape bilobed nuclei of neutrophils) is a characteristic hematological feature of this disease.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Regressive spondylometaphyseal dysplasia | |
| fr | Dysplasie spondylo-métaphysaire régressive | |
| de | Dysplasie, spondylometaphysäre, rezessive | |
| es | Displasia espondilometafisaria regresiva | |
| it | Displasia spondilometafisaria regressiva | |
| nl | Regressieve spondylometafysaire dysplasie | |
| pt | Displasia espondilometafisária regressiva | |
| pl | Regresywna dysplazja kręgowo-przynasadowa | |
| cs | Regresivní spondylometafyzární dysplázie | |
| uk | Регресивна спондилометафізарна дисплазія | |
| zh | 退行性脊椎干骺端结构不良 | |
| tr | Regresif spondilometafizeal displazi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 618019 | E | validated | |
| ICD-10 | Q77.8 | NTBT | attributed | validated |
| ICD-11 | LD24.4 | NTBT | attributed | validated |
| MONDO | 0018663 | E | validated | |
| UMLS | C4747922 | 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:254Spondylometaphyseal dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| LBR | Disease-causing germline mutation(s) in | Assessed | HGNC:6518 | ENSG00000143815 | 600024 | 1q42.12 | lamin B receptor | 25348816[PMID]_23824842[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 25348816[PMID]_23824842[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25348816[PMID]_23824842[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/448267
- This record as JSON: /data/d/448267.json