Syndactyly type 3
Synonyms: SD3 · Syndactyly of fingers 4 and 5
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare non-syndromic syndactyly characterized by complete and bilateral syndactyly between the 4th and 5th fingers. In most cases, it is a soft tissue syndactyly, but occasionally the distal phalanges may be fused. The middle phalanx of the fifth finger is usually hypoplastic, and the feet are not affected.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Syndactyly type 3 | SD3 · Syndactyly of fingers 4 and 5 |
| fr | Syndactylie type 3 | SD3 · Syndactylie du 4ème et 5ème doigt |
| de | Syndaktylie Typ 3 | Syndaktylie der Finger 4 und 5 |
| es | Sindactilia tipo 3 | SD3 · Sindactilia en los dedos 4 y 5 |
| it | Sindattilia, tipo 3 | SD3 · Sindattilia delle IV e V dita |
| nl | Syndactylie type 3 | SD3 · Syndactylie van vingers 4 en 5 |
| pt | Sindactilia tipo 3 | |
| pl | Syndaktylia typu 3 | SD3 · Syndaktylia 4 i 5 palca |
| cs | Syndaktylie, typ 3 | SD3 · Syndaktylie 4. a 5. prstu ruky |
| uk | Синдактилія, тип 3 | SD3 · Синдактилія 4 та 5 пальців |
| zh | 并指（趾）畸形3型 | 并指（趾）畸形4型和5型 |
| tr | Sindaktili tip 3 | SD3 · 4. ve 5. parmakların sindaktilisi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 186100 | E | validated | |
| ICD-10 | Q70.1 | NTBT | attributed | validated |
| ICD-11 | LB79.Y | NTBT | index | validated |
| MONDO | 0008514 | E | validated | |
| MeSH | C538154 | E | validated | |
| UMLS | C1861366 | E | validated | |
| GARD | 5088 | 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 |
|---|---|---|---|---|---|---|---|---|
| GJA1 | Disease-causing germline mutation(s) in | Assessed | HGNC:4274 | ENSG00000152661 | 121014 | 6q22.31 | gap junction protein alpha 1 | 12457340[PMID]_14729836[PMID] |
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.
HPO phenotypes
3 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0006101 | Finger syndactyly | |
| Frequent (79-30%) | ||
| HP:0100490 | Camptodactyly of finger | |
| Occasional (29-5%) | ||
| HP:0001831 | Short toe | |
Run the differential on the 1 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/93404
- This record as JSON: /data/d/93404.json