Syndactyly type 2
Synonyms: Synpolydactyly
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare non-syndromic syndactyly characterized by a distinctive combination of syndactyly and polydactyly, generally affecting the 3rd and 4th fingers and the 4th and 5th toes, bilaterally, with partial or complete reduplication of a digital ray within the syndactylous web. Additional features include 5th finger clinodactyly, camptodactyly and/or brachydactyly.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Syndactyly type 2 | Synpolydactyly |
| fr | Syndactylie type 2 | Synpolydactylie |
| de | Syndaktylie Typ 2 | Synpolydaktylie |
| es | Sindactilia tipo 2 | |
| it | Sindattilia, tipo 2 | Sinpolidattilia |
| nl | Syndactylie type 2 | Synpolydactylie |
| pt | Sindactilia tipo 2 | |
| pl | Syndaktylia typu 2 | Syndaktylia |
| cs | Syndaktylie, typ 2 | Synpolydaktylie |
| uk | Синдактилія, тип 2 | Синполідактилія |
| zh | 并指（趾）畸形2型 | 并指（趾）畸形 |
| tr | Sindaktili tip 2 | Sinpolidaktili |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 608180 | BTNT | validated | |
| OMIM | 610234 | BTNT | validated | |
| ICD-10 | Q70.0 | BTNT | attributed | validated |
| ICD-10 | Q70.2 | BTNT | attributed | validated |
| ICD-11 | LB79.Y | NTBT | index | validated |
| MONDO | 0021651 | E | validated | |
| MONDO | 21651 | E | validated | |
| MeSH | C538153 | E | validated | |
| UMLS | C2699746 | E | validated | |
| GARD | 5087 | 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 · 2 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 |
|---|---|---|---|---|---|---|---|---|---|
| FBLN1 | ORPHA:295197Synpolydactyly type 2 | Disease-causing germline mutation(s) in | Assessed | HGNC:3600 | ENSG00000077942 | 135820 | 22q13.31 | fibulin 1 | 22448207[PMID]_11836357[PMID] |
| HOXD13 | ORPHA:295195Synpolydactyly type 1 | Disease-causing germline mutation(s) in | Assessed | HGNC:5136 | ENSG00000128714 | 142989 | 2q31.1 | homeobox D13 | 22448207[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
12 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0004691 | 2-3 toe syndactyly | |
| HP:0006097 | 3-4 finger syndactyly | |
| Frequent (79-30%) | ||
| HP:0005916 | Abnormal metacarpal morphology | |
| HP:0100490 | Camptodactyly of finger | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0001830 | Postaxial foot polydactyly | |
| HP:0001773 | Short foot | |
| HP:0004279 | Short palm | |
| HP:0009773 | Symphalangism affecting the phalanges of the hand | |
| Occasional (29-5%) | ||
| HP:0100260 | Mesoaxial polydactyly | |
| HP:0001841 | Preaxial foot polydactyly | |
| HP:0001852 | Sandal gap | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 22333904[PMID]_22448207[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/93403
- This record as JSON: /data/d/93403.json