Spondylometaphyseal dysplasia, Golden type
historical
Synonyms: X-linked spondylometaphyseal dysplasia
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- No data available
- Status
- historical
A rare spondylometaphyseal dysplasia characterized by severe short stature, coarse facies, thoracolumbar kyphoscoliosis and enlarged joints with contractures. Psychomotor delay and intellectual disability may also be associated. Radiographic features include flat vertebral bodies, lacy ossification of the metaphyses of long bones and iliac crests, and marked sclerosis of the skull base. There have been no further description in the literature since 1977.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Spondylometaphyseal dysplasia, Golden type | X-linked spondylometaphyseal dysplasia |
| fr | Dysplasie spondylo-métaphysaire type Golden | Dysplasie spondylo-métaphysaire liée à l'X |
| de | Dysplasie, spondylometaphysäre, Typ Golden | Dysplasie, spondylometaphysäre, X-chromosomale |
| es | Displasia espondiloepifisaria tipo Golden | |
| it | Displasia spondilometafisaria, tipo Golden | Displasia spondilometafisaria legata all'X |
| nl | Spondylometafysaire dysplasie, Golden-type | X-gebonden spondylometafysaire dysplasie |
| pt | Displasia espondilometafisária, tipo Golden | |
| pl | Dysplazja kręgowo-przynasadowa, typu Goldena | Dysplazja kręgowo-przynasadowa sprzężona z chromosomem X |
| cs | Spondylometafyzární dysplázie, Goldenův typ | X-vázaná spondylometafyzární dysplázie |
| uk | Спондилометафізарна дисплазія, тип Голдена | Х-зчеплена спондилометафізарна дисплазія |
| zh | Golden 型脊柱干骺端发育不良 | X连锁脊柱干骺端发育不良 |
| tr | Spondilometafizer displazi, Golden tip | X'e bağlı spondilometafizyal displazi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 313420 | E | validated | |
| ICD-10 | Q77.8 | NTBT | attributed | validated |
| ICD-11 | LD24.4 | NTBT | index | validated |
| MONDO | 0010738 | E | validated | |
| UMLS | C0796172 | E | validated | |
| GARD | 8343 | 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
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| 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/168544
- This record as JSON: /data/d/168544.json