ORPHA:729566
Syndrome with a posterior fossa cystic malformation as a major feature
- Type
- Category
- Group
- Group of disorders
- Status
- active
This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.
1
Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Syndrome with a posterior fossa cystic malformation as a major feature | |
| fr | Syndrome avec malformation kystique de la fosse postérieure comme manifestation majeure | |
| de | Syndrom mit zystischer Fehlbildung der hinteren Schädelgrube als Hauptmerkmal | |
| es | Síndrome con malformación quística de la fosa posterior como característica principal | |
| it | Sindrome con malformazione cistica della fossa posteriore come caratteristica principale | |
| nl | Syndroom met cysteuze malformatie van fossa cranialis posterior als hoofdkenmerk | Syndroom met cysteuze malformatie van achterste schedelgroeve als hoofdkenmerk |
| pt | Syndrome with a posterior fossa cystic malformation as a major feature | |
| pl | Syndrome with a posterior fossa cystic malformation as a major feature | |
| cs | Syndrome with a posterior fossa cystic malformation as a major feature |
2
Cross-references
qualifier = Orphanet mapping relationNo cross-references in this release.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:729557Posterior fossa cystic malformation
rare developmental anomalies during embryogenesis; rare neurological diseases
Children (4):
- ORPHA:370022Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome
- ORPHA:401959Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome
- ORPHA:2703Port-wine nevi-mega cisterna magna-hydrocephalus syndrome
- ORPHA:269546Syndrome with a Dandy-Walker malformation as a major feature
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/729566
- This record as JSON: /data/d/729566.json