Polysyndactyly
Synonyms: PPD4 · Preaxial polydactyly type 4
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
Polysyndactyly or PPD4 is a form of preaxial polydactyly of fingers, a limb malformation syndrome, characterized by the presence of a thumb showing the mildest degree of duplication, being broad, bifid or with radially deviated distal phalanx. Syndactyly of various degrees of third-and-fourth fingers is occasionally present.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Polysyndactyly | PPD4 · Preaxial polydactyly type 4 |
| fr | Polysyndactylie | PPD4 · Polydactylie préaxiale type 4 |
| de | Polysyndaktylie | PPD4 · Polydaktylie, präaxiale, Typ 4 |
| es | Polisindactilia | PPD4 · Polidactilia preaxial tipo 4 |
| it | Polisindattilia | PPD4 · Polidattilia preassiale, tipo 4 |
| nl | Polysyndactylie | PPD4 · Preaxiale polydactylie type 4 |
| pt | Polissindactilia | PPD4 · Polidactilia pré-axial tipo 4 |
| pl | Polisyndaktylia | Polidaktylia przedosiowa typu 4 · PPD4 |
| cs | Polysyndaktylie | PPD4 · Preaxiální polydaktylie, typ 4 |
| uk | Полісиндактилія | PPD4 · Преаксіальна полідактилія 4 типу |
| zh | 多指(趾)并指(趾)畸形 | 轴前多指症4型 |
| tr | Polisindaktili | PPD4 · Preaksiyel polidaktili tip 4 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 174700 | E | validated | |
| ICD-10 | Q70.4 | E | specific | validated |
| ICD-11 | LB78.1 | E | specific | validated |
| MONDO | 8272 | E | validated | |
| UMLS | C0265553 | E | validated | |
| GARD | 9903 | E | validated | |
| MedDRA | 10063143 | 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:498464Non-syndromic preaxial polydactyly
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:295159OBSOLETE: Polysyndactyly, unilateral referred to · inactive
- ORPHA:295161OBSOLETE: Polysyndactyly, bilateral referred to · inactive
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GLI3 | Disease-causing germline mutation(s) in | Assessed | HGNC:4319 | ENSG00000106571 | 165240 | 7p14.1 | GLI family zinc finger 3 | 26394607[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | 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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/93338
- This record as JSON: /data/d/93338.json