Spondylometaphyseal dysplasia, A4 type
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
Spondylometaphyseal dysplasia, A4 type is a rare primary bone dysplasia disorder characterized by disproportionate short stature, severe femoral neck deformity, marked metaphyseal abnormalities and platyspondyly consisting of ovoid vertebral bodies that have an anterior tongue-like deformity.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Spondylometaphyseal dysplasia, A4 type | |
| fr | Dysplasie spondylo-métaphysaire type A4 | |
| de | Dysplasie, spondyloepimetaphysäre, Typ A4 | |
| es | Displasia espondilometafisaria tipo A4 | |
| it | Displasia spondilometafisaria tipo A4 | |
| nl | Spondylometafysaire dysplasie, A4-type | |
| pt | Displasia espondilometafisária, tipo A4 | |
| pl | Dysplazja kręgowo-przynasadowa typu A4 | |
| cs | Spondylometafyzární dysplázie, typ A4 | |
| uk | Спондилометафізарна дисплазія, тип А4 | |
| zh | A4型脊柱干骺端发育不良 | |
| tr | Spondilometafizer displazi, A4 tipi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 609052 | E | validated | |
| ICD-10 | Q77.8 | NTBT | attributed | validated |
| ICD-11 | LD24.4 | NTBT | index | validated |
| MONDO | 0012185 | E | validated | |
| MeSH | C563803 | E | validated | |
| UMLS | C1836862 | E | validated | |
| GARD | 458 | 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.
Codes that Orphanet moved or referred to this one:
- ORPHA:370019Spondylometaphyseal dysplasia, Czarny-Ratajczak type moved to · inactive
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 | 9637426[PMID]_15517830[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_9637426[PMID]_15517830[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
8 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002812 | Coxa vara | |
| HP:0002983 | Micromelia | |
| HP:0000926 | Platyspondyly | |
| HP:0003510 | Severe short stature | |
| HP:0002657 | Spondylometaphyseal dysplasia | |
| Frequent (79-30%) | ||
| HP:0004279 | Short palm | |
| Occasional (29-5%) | ||
| HP:0006603 | Flared, irregular rib ends | |
| HP:0001376 | Limitation of joint mobility | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 9637426[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/168555
- This record as JSON: /data/d/168555.json