Polydactyly of a triphalangeal thumb
Synonyms: PPD2 · Preaxial polydactyly type 2
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal
- Status
- active
Polydactyly of a triphalangeal thumb or PPD2 is a form of preaxial polydactyly of fingers, a limb malformation syndrome, that is characterized by the presence of a usually opposable triphalangeal thumb with or without additional duplication of one or more skeletal components of the thumb. The thumb appearance can differ widely in shape (wedge to rectangular) or it can be deviated in the radio-ulnar plane (clinodactyly). PPD2 is also associated with systemic syndromes, including Holt-Oram syndrome and Fanconi anemia.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Polydactyly of a triphalangeal thumb | PPD2 · Preaxial polydactyly type 2 |
| fr | Polydactylie d'un pouce triphalangé | PPD2 · Polydactylie préaxiale type 2 |
| de | Polydaktylie des triphalangealen Daumens | PPD2 · Polydaktylie, präaxiale, Typ 2 |
| es | Polidactilia del pulgar trifalángico | PPD2 · Polidactilia preaxial tipo 2 |
| it | Polidattilia del pollice trifalangeo | PPD2 · Polidattilia preassiale, tipo 2 |
| nl | Polydactylie van trifalangeale duim | PPD2 · Preaxiale polydactylie type 2 |
| pt | Polidactilia de um polegar trifalângico | PPD2 · Polidactilia pré-axial tipo 2 |
| pl | Polidaktylia trójpaliczkowego kciuka | Polidaktylia przedosiowa typu 2 · PPD2 |
| cs | Polydaktylie trifalangeálního palce ruky | PPD2 · Preaxiální polydaktylie, typ 2 |
| uk | Полідактилія трифалангового великого пальця | PPD2 · Преаксіальна полідактилія 2 типу |
| zh | 三节指节拇指并多指 | 轴前多指症2型 |
| tr | Trifalanjiyal başparmak polidaktilisi | PPD2 · Preaksiyel polidaktili tip 2 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 174500 | NTBT | validated | |
| ICD-10 | Q69.1 | NTBT | attributed | validated |
| ICD-11 | LD26.2 | NTBT | index | validated |
| MONDO | 0008270 | E | validated | |
| UMLS | C1868114 | E | validated | |
| GARD | 5289 | 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:295148OBSOLETE: Polydactyly of a triphalangeal thumb, unilateral referred to · inactive
- ORPHA:295150OBSOLETE: Polydactyly of a triphalangeal thumb, bilateral referred to · inactive
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 | 26394607[PMID] |
| SHH | Disease-causing germline mutation(s) in | Assessed | HGNC:10848 | ENSG00000164690 | 600725 | 7q36.3 | sonic hedgehog signaling molecule | 26394607[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 4 / 100 000 | Worldwide | Value and class | 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/93336
- This record as JSON: /data/d/93336.json