ORPHA:3180
Spondylocamptodactyly syndrome
historical
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Neonatal
- Status
- historical
A rare spondylodysplastic syndrome characterized by camptodactyly, cervical platyspondyly, and variable degrees of thoracic scoliosis. There have been no further descriptions in the literature since 1995.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Spondylocamptodactyly syndrome | |
| fr | Syndrome spondylo-camptodactylie | |
| de | Spondylo-Kamptodaktylie-Syndrom | |
| es | Síndrome espondilo-camptodactilia | |
| it | Sindrome spondilo-camptodattilia | |
| nl | Spondylocamptodactylie-syndroom | |
| pt | Síndrome de espondilocamptodactilia | |
| pl | Zespół kamptodaktylii z platyspondylią | |
| cs | Syndrom spondylokamptodaktylie | |
| uk | Синдром спондилокампотодактилії | |
| zh | 先天性脊椎指屈曲 | |
| tr | Spondiloamptodaktili sendrom |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 600000 | E | validated | |
| ICD-10 | Q77.8 | NTBT | attributed | validated |
| ICD-11 | LD24.5Y | NTBT | attributed | validated |
| MONDO | 0010801 | E | validated | |
| MeSH | C535779 | E | validated | |
| UMLS | C4274762 | E | validated | |
| GARD | 4972 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:93434Spondylodysplastic dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 5 cases | Worldwide | Case(s) | Validated | 8591666[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_8591666[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.
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HPO phenotypes
3 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0100490 | Camptodactyly of finger | |
| HP:0000926 | Platyspondyly | |
| HP:0002650 | Scoliosis | |
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3180
- This record as JSON: /data/d/3180.json