ORPHA:1505
Short rib-polydactyly syndrome
- Type
- Clinical group
- Group
- Group of disorders
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
A group of bone malformations characterized by a narrow thorax and polydactyly (usually preaxial).
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Short rib-polydactyly syndrome | |
| fr | Syndrome des côtes courtes-polydactylie | |
| de | Kurzrippen-Polydaktylie-Syndrom | |
| es | Síndrome de costillas cortas-polidactilia | |
| it | Sindrome costa corta-polidattilia | |
| nl | Korte rib - polydactylie-syndroom | |
| pt | Síndrome de costela curta-polidactilia | |
| pl | Zespół krótkie żebro - polidaktylia | |
| cs | Syndrom zahrnující krátká žebra a polydaktylii | |
| uk | Синдром короткого ребра-полідактилії | |
| zh | 短肋多指(趾)畸形综合征 | |
| tr | Kısa kaburga-polidaktili sendrom |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-11 | LD24.B0 | E | specific | validated |
| MONDO | 0015461 | E | validated | |
| MONDO | 15461 | E | validated | |
| MeSH | D012779 | E | validated | |
| UMLS | C0036996 | 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 (2):
- ORPHA:93426Ciliopathies with major skeletal involvement
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:182108Thoracic malformation
rare respiratory diseases
Children (9):
- ORPHA:1515Cranioectodermal dysplasia
- ORPHA:289Ellis-Van Creveld syndrome
- ORPHA:474Jeune syndrome
- ORPHA:397715Joubert syndrome with Jeune asphyxiating thoracic dystrophy
- ORPHA:498497Short rib-polydactyly syndrome type 5
- ORPHA:93268Short rib-polydactyly syndrome, Beemer-Langer type
- ORPHA:93269Short rib-polydactyly syndrome, Majewski type
- ORPHA:93270Short rib-polydactyly syndrome, Saldino-Noonan type
- ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff type
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| 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.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1505
- This record as JSON: /data/d/1505.json