Syndactyly type 4
Synonyms: Polysyndactyly, Haas type
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare non-syndromic syndactyly characterized by complete bilateral cutaneous fusion of all fingers, frequently associated with polydactyly (usually involving six digits and six metacarpals). Phalanges may fuse as a conglomerate mass of bones. Feet are occasionally affected.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Syndactyly type 4 | Polysyndactyly, Haas type |
| fr | Syndactylie type 4 | Polysyndactylie type Haas |
| de | Syndaktylie Typ 4 | Polysyndaktylie Typ Haas |
| es | Sindactilia tipo 4 | |
| it | Sindattilia, tipo 4 | Polisindattilia, tipo Hass |
| nl | Syndactylie type 4 | Polysyndactylie, Haas-type |
| pt | Sindactilia tipo 4 | |
| pl | Syndaktylia typu 4 | Polisyndaktylia, typ Haasa |
| cs | Syndaktylie, typ 4 | Polysyndaktylie, Haasův typ |
| uk | Синдактилія, тип 4 | Полісиндактилія, тип Хааса |
| zh | 并指（趾）畸形4型 | 并指（趾）畸形，Haas型 |
| tr | Sindaktili tip 4 | Polisindaktili, Haas tipi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 186200 | E | validated | |
| ICD-10 | Q70.4 | NTBT | attributed | validated |
| ICD-11 | LB79.Y | NTBT | index | validated |
| MONDO | 0008515 | E | validated | |
| MeSH | C566092 | E | validated | |
| UMLS | C1861355 | E | validated | |
| GARD | 4434 | 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
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| LMBR1 | Disease-causing germline mutation(s) in | Assessed | HGNC:13243 | ENSG00000105983 | 605522 | 7q36.3 | limb development membrane protein 1 | 24456159[PMID] |
| SHH | Disease-causing germline mutation(s) in | Assessed | HGNC:10848 | ENSG00000164690 | 600725 | 7q36.3 | sonic hedgehog signaling molecule |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 22448207[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_22448207[PMID] |
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
9 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0010708 | 1-5 finger syndactyly | |
| HP:0100490 | Camptodactyly of finger | |
| HP:0001161 | Hand polydactyly | |
| Frequent (79-30%) | ||
| HP:0001501 | 6 metacarpals | |
| HP:0001829 | Foot polydactyly | |
| HP:0005736 | Short tibia | |
| HP:0001770 | Toe syndactyly | |
| Occasional (29-5%) | ||
| HP:0001376 | Limitation of joint mobility | |
| HP:0001199 | Triphalangeal thumb | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 17476456[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/93405
- This record as JSON: /data/d/93405.json