Crossed polysyndactyly
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal
- Status
- active
A rare, hereditary, congenital limb malformation characterized by polydactyly with crossed involvement of hands and feet with no other associated malformations or anomalies. Patients present with a combination of unilateral or bilateral preaxial polydactyly of hands with postaxial polydactyly of feet or postaxial polydactyly of hands with preaxial polydactyly of feet. Additional manifestations include bilateral cutaneous syndactyly of first, second and third toes and occasionally cutaneous syndactyly of hands.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Crossed polysyndactyly | |
| fr | Polysyndactylie croisée | |
| de | Polysyndaktylie, gekreuzte | |
| es | Polisindactilia cruzada | |
| it | Polisindattilia crociata | Polidattilia crociata |
| nl | Gekruiste polysyndactylie | |
| pt | Polissindactilia cruzada | |
| pl | Polisyndaktylia skrzyżowana | Polidaktylia skrzyżowana |
| cs | Zkřížená polysyndaktylie | Zkřížená polydaktylie |
| uk | Перехресна полісиндактилія | |
| zh | 交叉性多指(趾)并指(趾)畸形 | |
| tr | Çizgili polisindaktili |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 175690 | E | validated | |
| ICD-10 | Q70.4 | NTBT | attributed | validated |
| ICD-11 | LD26.2 | NTBT | index | validated |
| MONDO | 0008286 | E | validated | |
| MeSH | C566773 | E | validated | |
| UMLS | C1867999 | E | validated | |
| GARD | 1617 | 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:294959Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 12 cases | Worldwide | Case(s) | Validated | 8042663[PMID]_20127219 [PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_8042663[PMID]_20127219 [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
11 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0006101 | Finger syndactyly | |
| HP:0001162 | Postaxial hand polydactyly | |
| Frequent (79-30%) | ||
| HP:0007477 | Abnormal dermatoglyphics | |
| Occasional (29-5%) | ||
| HP:0000356 | Abnormality of the outer ear | |
| HP:0000288 | Abnormality of the philtrum | |
| HP:0009601 | Aplasia/Hypoplasia of the thumb | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0000364 | Hearing abnormality | |
| HP:0008736 | Hypoplasia of penis | |
| HP:0000486 | Strabismus | |
| HP:0000582 | Upslanted palpebral fissure | |
Run the differential on the 2 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2935
- This record as JSON: /data/d/2935.json