ORPHA:93335
Postaxial polydactyly type B
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal
- Status
- active
A rare congenital limb malformation characterized by duplication of the fifth digit in a hand or foot, the sixth digit being rudimentary, poorly developed, and non-functional, frequently consisting of additional soft tissue on a pedicle. The anomaly can be unilateral or bilateral.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Postaxial polydactyly type B | |
| fr | Polydactylie post-axiale type B | |
| de | Polydaktylie, postaxiale, Typ B | |
| es | Polidactilia postaxial tipo B | |
| it | Polidattilia postassiale, tipo B | |
| nl | Postaxiale polydactylie type B | |
| pt | Polidactilia pós-axial tipo B | |
| pl | Polidaktylia zaosiowa typu B | |
| cs | Postaxiální polydaktylie, typ B | |
| uk | Постаксіальна полідактилія, тип В | |
| zh | 后端多指趾畸形B型 | |
| tr | Eksenel polidaktili tip B |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 174200 | NTBT | validated | |
| ICD-10 | Q69.0 | NTBT | attributed | validated |
| ICD-11 | LB78.2 | NTBT | index | validated |
| MONDO | 0019674 | E | validated | |
| UMLS | C1868120 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:498467Non-syndromic postaxial polydactyly
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:295167OBSOLETE: Postaxial polydactyly type B, unilateral referred to · inactive
- ORPHA:295169OBSOLETE: Postaxial polydactyly type B, bilateral referred to · inactive
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Genes
2 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 | 31549748[PMID] |
| GLI3 | Disease-causing germline mutation(s) in | Assessed | HGNC:4319 | ENSG00000106571 | 165240 | 7p14.1 | GLI family zinc finger 3 | 26394607[PMID]_18000979[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | 43.5 / 100 000 | Mexico | Value and class | Validated | 31091006[PMID]_ORPHANET |
| Prevalence at birth | 1-5 / 10 000 | 43.5 / 100 000 | Mexico | Value and class | Validated | 31091006[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.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/93335
- This record as JSON: /data/d/93335.json