Banki syndrome
historical
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Neonatal
- Status
- historical
Banki syndrome is a synostosis syndrome, reported in a single Hungarian family in which members of 3 generations showed lunotriquetral synostosis, clinodactyly, clinometacarpy, brachymetacarpy and leptometacarpy (thin diaphysis). It appeared to be a unique dominant mutation. There have been no further descriptions in the literature since 1965.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Banki syndrome | |
| fr | Syndrome de Banki | |
| de | Banki-Syndrom | |
| es | Síndrome de Banki | |
| it | Sindrome di Banki | |
| nl | Syndroom van Banki | |
| pt | Síndrome Banki | |
| pl | Zespół Banki | |
| cs | Bankiho syndrom | |
| uk | Синдром Банкі | |
| zh | Banki综合征 | |
| tr | Banki sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 109300 | E | validated | |
| ICD-10 | Q68.1 | NTBT | attributed | validated |
| MONDO | 0007185 | E | validated | |
| MeSH | C566228 | E | validated | |
| UMLS | C1862319 | E | validated | |
| GARD | 813 | 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:93459Syndrome with synostosis or other joint formation defect
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 1 families | Worldwide | Family(ies) | Validated | DOI: 10.1055/s-0029-1227792[OTHER] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_DOI: 10.1055/s-0029-1227792[OTHER] |
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
4 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0005916 | Abnormal metacarpal morphology | |
| HP:0001156 | Brachydactyly | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0005048 | Synostosis of carpal bones | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1228
- This record as JSON: /data/d/1228.json