Syndactyly type 5
Synonyms: Postaxial syndactyly with metacarpal synostosis · SD5
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare non-syndromic syndactyly characterized by soft tissue syndactyly of the 3rd and 4th fingers and the 2nd and 3rd toes associated with metacarpal and metatarsal fusion of the 4th and 5th digits. Shortening of fused metacarpals, ulnar deviation of fingers, interdigital cleft, camptodactyly, short distal phalanges, and absent distal interphalangeal creases have also been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Syndactyly type 5 | Postaxial syndactyly with metacarpal synostosis · SD5 |
| fr | Syndactylie type 5 | Syndactylie postaxiale avec synostose métacarpienne |
| de | Syndaktylie Typ 5 | Postaxiale Syndaktylie mit Metakarpal-Synostose |
| es | Sindactilia tipo 5 | SD5 · Sindactilia postaxial con sinostosis metacarpiana |
| it | Sindattilia, tipo 5 | SD5 · Sindattilia postassiale con sinostosi metacarpale |
| nl | Syndactylie type 5 | Postaxiale syndactylie met metacarpale synostose · SD5 |
| pt | Sindactilia tipo 5 | |
| pl | Syndaktylia typu 5 | SD5 · Syndaktylia zaosiowa z kościozrostem kości śródręcza |
| cs | Syndaktylie, typ 5 | Postaxiální syndaktylie s metakarpální synostózou · SD5 |
| uk | Синдактилія, тип 5 | Постаксіальна синдактилія з пястковим синостозом · SD5 |
| zh | 并指（趾）畸形5型 | 轴后并指伴掌骨融合 |
| tr | Sindaktili tip 5 | SD5 · Metakarpal sinostoz ile seyreden postaksiyal sindaktili |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 186300 | E | validated | |
| ICD-10 | Q70.0 | BTNT | attributed | validated |
| ICD-10 | Q70.2 | BTNT | attributed | validated |
| ICD-11 | LB79.Y | NTBT | index | validated |
| MONDO | 0008516 | E | validated | |
| MeSH | C538155 | E | validated | |
| UMLS | C1861348 | E | validated | |
| GARD | 5089 | 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:90025Non-syndromic syndactyly
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| HOXD13 | Disease-causing germline mutation(s) in | Assessed | HGNC:5136 | ENSG00000128714 | 142989 | 2q31.1 | homeobox D13 | 17236141[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 10 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | 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.
HPO phenotypes
8 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0009701 | Metacarpal synostosis | |
| HP:0001440 | Metatarsal synostosis | |
| HP:0009882 | Short distal phalanx of finger | |
| HP:0009465 | Ulnar deviation of finger | |
| Frequent (79-30%) | ||
| HP:0004691 | 2-3 toe syndactyly | |
| HP:0006097 | 3-4 finger syndactyly | |
| HP:0100490 | Camptodactyly of finger | |
| Occasional (29-5%) | ||
| HP:0004209 | Clinodactyly of the 5th finger | |
Run the differential on the 4 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/93406
- This record as JSON: /data/d/93406.json