Spondylo-megaepiphyseal-metaphyseal dysplasia
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, genetic primary bone displasia characterized by disproportionate short stature with short, stiff neck and trunk and relatively long limbs, fingers and toes (which may present flexion contractures), severe vertebral body ossification delay (with frequent pycnodysostosis), markedly enlarged round epiphyses of the long bones, absent ossification of pubic bones and multiple pseudoepiphyses of the short tubular bones in hands and feet. Neurological manifestations resulting from cervical spine instability may be observed.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Spondylo-megaepiphyseal-metaphyseal dysplasia | |
| fr | Dysplasie spondylo-mégaépiphysaire-métaphysaire | |
| de | Dysplasie, spondylo-megaepiphysäre-metaepiphysäre | |
| es | Displasia espondilo-megaepifisaria-metafisaria | |
| it | Displasia spondilo-megaepifisaria-metafisaria | |
| nl | Spondylo-megaepifysaire-metafysaire dysplasie | |
| pt | Displasia espondilo-megaepifisária-metafisária | |
| pl | Dysplazja kręgosłupowo-wielkonasadowo-nasadowa | |
| cs | Spondylo-megaepifyzární-metafyzární dysplázie | |
| uk | Спондило-мегаепіфізарно-метафізарна дисплазія | |
| zh | 脊柱-骨骺-干骺端发育不全 | |
| tr | Spondilo-megaepifizyal-metafizer displazi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613330 | E | validated | |
| ICD-10 | Q77.7 | NTBT | attributed | validated |
| ICD-11 | LD24.3 | NTBT | attributed | validated |
| MONDO | 0013228 | E | validated | |
| MeSH | C567639 | E | validated | |
| UMLS | C2750066 | 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
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| NKX3-2 | Disease-causing germline mutation(s) in | Assessed | HGNC:951 | ENSG00000109705 | 602183 | 4p15.33 | NK3 homeobox 2 | 20004766[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 19 cases | Worldwide | Case(s) | Validated | 22791571[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_22791571[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/228387
- This record as JSON: /data/d/228387.json