ORPHA:254
Spondylometaphyseal dysplasia
- Type
- Clinical group
- Group
- Group of disorders
- Inheritance
- Autosomal dominant, Autosomal recessive, X-linked recessive
- Age of onset
- Infancy
- Status
- active
Spondylometaphyseal dysplasias are a heterogeneous group of disorders associated with walking and growth disturbances that become evident during the second year of life.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Spondylometaphyseal dysplasia | |
| fr | Dysplasie spondylo-métaphysaire | |
| de | Dysplasie, spondylometaphysäre | |
| es | Displasia espondilometafisaria | |
| it | Displasia spondilometafisaria | |
| nl | Spondylometafysaire dysplasie | |
| pt | Displasia espondilo-metafisária | |
| pl | Dysplazja kręgowo-przynasadowa | |
| cs | Spondylometafyzární dysplázie | |
| uk | Спондилометафізарна дисплазія | |
| zh | 脊椎干骺端发育不良 | |
| tr | Spondilometafizeal displazi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-11 | LD24.4 | E | specific | validated |
| MONDO | 0016763 | E | validated | |
| MONDO | 16763 | E | validated | |
| UMLS | C4759767 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:364526Primary bone dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
Children (12):
- ORPHA:168549Axial spondylometaphyseal dysplasia
- ORPHA:166272Odontochondrodysplasia
- ORPHA:448267Regressive spondylometaphyseal dysplasia
- ORPHA:1855Spondyloenchondrodysplasia
- ORPHA:93315Spondylometaphyseal dysplasia, 'corner fracture' type
- ORPHA:168555Spondylometaphyseal dysplasia, A4 type
- ORPHA:168544Spondylometaphyseal dysplasia, Golden type
- ORPHA:93314Spondylometaphyseal dysplasia, Kozlowski type
- ORPHA:93316Spondylometaphyseal dysplasia, Schmidt type
- ORPHA:168552Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome
- ORPHA:85167Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
- ORPHA:589435Spondylometaphyseal dysplasia-corneal dystrophy syndrome
Codes that Orphanet moved or referred to this one:
- ORPHA:2641OBSOLETE: Micromelic dwarfism, Fryns type referred to · inactive
- ORPHA:163678OBSOLETE: Unclassified spondylometaphyseal dysplasia referred to · inactive
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 1 / 100 000 | Europe | Value and class | Validated | ORPHANET |
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet 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.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/254
- This record as JSON: /data/d/254.json