Polydactyly of a biphalangeal thumb and/or hallux
Synonyms: PPD1 · Preaxial polydactyly type 1
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare non-syndromic limb malformation characterized by the duplication of one or more skeletal components of a biphalangeal thumb and/or hallux. Hands are preferentially affected (in bilateral), and the right hand is more commonly involved than the left. Hallux duplication may present concomitantly to, or independently of thumb polydactyly and is predominantly unilateral right.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Polydactyly of a biphalangeal thumb and/or hallux | PPD1 · Preaxial polydactyly type 1 |
| fr | Polydactylie d'un pouce et/ou d'un hallux biphalangé | PPD1 · Polydactylie préaxiale type 1 |
| de | Polydaktylie eines biphalangealen Daumens und/oder Hallux | PPD1 · Polydaktylie, postaxiale, 1 |
| es | Polidactilia de pulgar bifalángico y/o hallux | PPD1 · Polidactilia preaxial tipo 1 |
| it | Polidattilia del pollice e/o dellalluce bifalangeo | PPD1 · Polidattilia preassiale, tipo 1 |
| nl | Polydactylie van bifalangeale duim en/of hallux | PPD1 · Preaxiale polydactylie type 1 |
| pt | Polidactilia de um polegar bifalângico e/ou hallux | PPD1 · Polidactilia pré-axial tipo 1 |
| pl | Polidaktylia dwupaliczkowgo kciuka | Polidaktylia przedosiowa typu 1 · PPD1 · Polidaktylia dwupaliczkowego kciuka i/lub palucha |
| cs | Polydaktylie dvoučlánkového palce | PPD1 · Preaxiální polydaktylie, typ 1 |
| uk | Полідактилія двофалангового великого пальця та/або плоскостопість | PPD1 · Преаксіальна полідактилія типу 1 |
| zh | 双指拇指畸形 | 轴前多指症1型 |
| tr | Bifalanjiyal başparmak polidaktilisi | PPD1 · Preaksiyel polidaktili tip 1 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 174400 | E | validated | |
| ICD-10 | Q69.1 | E | specific | validated |
| ICD-11 | LB78.0 | NTBT | specific | validated |
| MeSH | C536332 | E | validated | |
| UMLS | C1395852 | 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:295144OBSOLETE: Polydactyly of a biphalangeal thumb, unilateral referred to · inactive
- ORPHA:295146OBSOLETE: Polydactyly of a biphalangeal thumb, bilateral referred to · inactive
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GLI1 | Disease-causing germline mutation(s) in | Assessed | HGNC:4317 | ENSG00000111087 | 165220 | 12q13.3 | GLI family zinc finger 1 | 30620395[PMID] |
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/93339
- This record as JSON: /data/d/93339.json