Dandy-Walker malformation-postaxial polydactyly syndrome
historical
Synonyms: DWM with postaxial polydactyly · Pierquin syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- historical
A rare congenital limb malformation characterized by Dandy-Walker malformation and postaxial polydactyly. The Dandy-Walker malformation (characterized by posterior fossa cyst communicating with the fourth ventricle, the partial or complete absence of the cerebellar vermis, and facultative hydrocephalus) has a variable expression. Postaxial polydactyly includes tetramelic postaxial polydactyly of hands and feet with possible enlargement of the fifth metacarpal and metatarsal bones, as well as bifid fifth metacarpals. There have been no further descriptions in the literature since 1999.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Dandy-Walker malformation-postaxial polydactyly syndrome | DWM with postaxial polydactyly · Pierquin syndrome |
| fr | Syndrome de Dandy-Walker-polydactylie postaxiale | MDW avec polydactylie postaxiale · Syndrome de Pierquin |
| de | Dandy-Walker-Fehlbildung-postaxiale Polydaktylie-Syndrom | Pierquin-Syndrom |
| es | Síndrome de malformación de Dandy-Walker-polidactilia postaxial | DWM con polidactilia postaxial · Síndrome de Pierquin |
| it | Malformazione di Dandy-Walker - polidattilia postassiale | DWM con polidattilia postassiale · Sindrome di Pierquin |
| nl | Dandy-Walker malformatie - postaxiale polydactylie-syndroom | DWM met postaxiale polydactylie · Syndroom van Pierquin |
| pt | Síndrome de malformação de Dandy-Walker-polidactilia pós-axial | |
| pl | Malformacja Dandy'ego i Walkera - polidaktylia zaosiowa | DWM z polidaktylią zaosiową · Zespół Pierquina |
| cs | Syndrom zahrnující Dandyho-Walkerovu malformaci a postaxiální polydaktylii | DWM s postaxiální polydaktylií · Pierquinův syndrom · Syndrom zahrnující Dandy-Walkerovu malformaci a postaxiální polydaktylii |
| uk | Синдром вади розвитку Денді-Уокера - постаксіальна полідактилія | DWM з постаксіальною полідактилією · Синдром Пєркіна |
| zh | Dandy-Walker畸形-轴后性多指综合征 | DWM伴轴后性多指 |
| tr | Dandy-Walker malformasyonu-postaksiyal polidaktili sendrom | Pierquin sendromu · Postaksiyel polidaktili DWM |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 220220 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0009075 | E | validated | |
| MeSH | C535771 | E | validated | |
| UMLS | C1857351 | E | validated | |
| GARD | 1669 | 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 (3):
- ORPHA:269570Genetic syndrome with a Dandy-Walker malformation as a major feature
rare genetic diseases - ORPHA:269546Syndrome with a Dandy-Walker malformation as a major feature
rare developmental anomalies during embryogenesis; rare neurological diseases - 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 | 5 cases | Worldwide | Case(s) | Validated | 23324646[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_23324646[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
2 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001305 | Dandy-Walker malformation | |
| HP:0001162 | Postaxial hand polydactyly | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1566
- This record as JSON: /data/d/1566.json