Short rib-polydactyly syndrome type 5
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal
- Status
- active
A rare ciliopathy with major skeletal involvement characterized by short ribs, micromelia, limb bowing, polysyndactyly, absent ossification of the radii, tibiae and fibulae, as well as the bony elements of the hands and feet, and hypoplastic scapulae. Additional hallmarks of ciliopathic disease, such as laterality defects and cystic kidneys, have also been observed.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Short rib-polydactyly syndrome type 5 | |
| fr | Syndrome des côtes courtes-polydactylie type 5 | |
| de | Kurzrippen-Polydaktylie-Syndrom Typ 5 | |
| es | Síndrome de polidactilia-costillas cortas tipo 5 | |
| it | Sindrome costa corta-polidattilia tipo 5 | |
| nl | Korte rib - polydactylie-syndroom type 5 | |
| pt | Síndrome da costela curta-polidactilia tipo 5 | |
| pl | Zespół krótkie żebra-polidaktylia typ 5 | |
| cs | Syndrom krátkých žeber s polydaktylií, typ 5 | |
| uk | Синдром полідактилії з короткими ребрами, тип 5 | |
| zh | 短肋-多指综合征5型 | |
| tr | Kısa kaburga-polidaktili sendromu tip 5 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614091 | E | validated | |
| ICD-10 | Q77.2 | NTBT | attributed | validated |
| ICD-11 | LD24.B0 | NTBT | attributed | validated |
| MONDO | 0013569 | E | validated | |
| UMLS | C5681240 | 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:1505Short rib-polydactyly syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare respiratory diseases; rare bone diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| WDR35 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:29250 | ENSG00000118965 | 613602 | 2p24.1 | WD repeat domain 35 | 17935248[PMID]_21473986[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 17935248[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_17935248[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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/498497
- This record as JSON: /data/d/498497.json