Syndactyly type 1
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
A rare non-syndromic syndactyly characterized by complete or partial webbing between the 3rd and 4th fingers and/or the 2nd and 3rd toes. Other digits may be involved occasionally. The phenotype varies widely within and between families, sometimes only the hands are affected and sometimes only the feet. Webbing between fingers may be associated with bony fusion of the distal phalanges.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Syndactyly type 1 | |
| fr | Syndactylie type 1 | |
| de | Syndaktylie Typ 1 | |
| es | Sindactilia tipo 1 | |
| it | Sindattilia, tipo 1 | |
| nl | Syndactylie type 1 | |
| pt | Sindactilia tipo 1 | |
| pl | Syndaktylia typu 1 | |
| cs | Syndaktylie, typ 1 | |
| uk | Синдактилія, тип 1 | |
| zh | 并指（趾）畸形1型 | |
| tr | Sindaktili tip 1 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 185900 | E | validated | |
| ICD-10 | Q70.1 | BTNT | attributed | validated |
| ICD-10 | Q70.3 | BTNT | attributed | validated |
| ICD-11 | LB79.Y | NTBT | index | validated |
| MONDO | 0008512 | E | validated | |
| MeSH | C566096 | E | validated | |
| UMLS | C1861380 | E | validated | |
| GARD | 5081 | 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
Genes
0 direct · 1 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| HOXD13 | ORPHA:295191Zygodactyly type 3 | Disease-causing germline mutation(s) in | Assessed | HGNC:5136 | ENSG00000128714 | 142989 | 2q31.1 | homeobox D13 | 24789103[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-5 / 10 000 | 25 / 100 000 | Europe | Value and class | Validated | [EXPERT] |
| Point prevalence | 1-5 / 10 000 | — | Europe | Class only | Validated | [EXPERT] |
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 2023-08-14| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0004691 | 2-3 toe syndactyly | |
| HP:0006097 | 3-4 finger syndactyly | |
| HP:0001770 | Toe syndactyly | |
| Occasional (29-5%) | ||
| HP:0009773 | Symphalangism affecting the phalanges of the hand | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 22448207[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/93402
- This record as JSON: /data/d/93402.json