Isolated Dandy-Walker malformation
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Multigenic/multifactorial
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare non-syndromic central nervous system malformation characterized by the association of three signs: hydrocephalus, partial or complete absence of the cerebellar vermis, and posterior fossa cyst contiguous with the fourth ventricle, presenting early in life with hydrocephalus, bulging occiput and posterior fossa signs such as cranial nerve palsies, nystagmus and ataxia.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isolated Dandy-Walker malformation | |
| fr | Malformation de Dandy-Walker isolée | Syndrome de Dandy-Walker isolé |
| de | Dandy-Walker-Fehlbildung, isolierte | |
| es | Malformación de Dandy-Walker aislada | |
| it | Malformazione isolata di Dandy-Walker | |
| nl | Geïsoleerde Dandy-Walker malformatie | |
| pt | Malformação de Dandy-Walker isolada | |
| pl | Izolowana malformacja Dandy'ego i Walkera | |
| cs | Izolovaná Dandyho-Walkerova malformace | Izolovaná Dandy-Walkerova malformace |
| uk | Ізольована мальформація Денді-Уокера | |
| zh | 孤立型丹迪-沃克畸形 | |
| tr | İzole Dandy-Walker malformasyonu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 220200 | E | validated | |
| ICD-10 | Q03.1 | NTBT | inclusion | validated |
| ICD-11 | LA06.0 | E | specific | validated |
| MONDO | 0009072 | E | validated | |
| UMLS | C2931867 | E | validated | |
| GARD | 6242 | 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 (2):
- ORPHA:730393Genetic isolated posterior fossa cystic malformation
rare genetic diseases - ORPHA:729563Isolated posterior fossa cystic malformation
rare developmental anomalies during embryogenesis; rare neurological diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:269212OBSOLETE: Isolated Dandy-Walker malformation with hydrocephalus referred to · inactive
- ORPHA:269215OBSOLETE: Isolated Dandy-Walker malformation without hydrocephalus referred to · inactive
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ZIC1 | Role in the phenotype of | Assessed | HGNC:12872 | ENSG00000152977 | 600470 | 3q24 | Zic family zinc finger 1 | 15338008[PMID]_15733262[PMID]_21204220[PMID]_21307096[PMID] |
| ZIC4 | Role in the phenotype of | Assessed | HGNC:20393 | ENSG00000174963 | 608948 | 3q24 | Zic family zinc finger 4 | 15338008[PMID]_15733262[PMID]_21204220[PMID]_21307096[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 1 / 100 000 | Europe | Value and class | Validated | [EXPERT]_ORPHANET |
| Point prevalence | 1-9 / 100 000 | 2.1 / 100 000 | Europe | Value and class | Validated | [EXPERT]_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
20 annotations · validated 2024-06-03| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001305 | Dandy-Walker malformation | |
| HP:0000238 | Hydrocephalus | |
| HP:0000256 | Macrocephaly | |
| HP:0002691 | Platybasia | |
| HP:0000269 | Prominent occiput | |
| Frequent (79-30%) | ||
| HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | |
| HP:0001321 | Cerebellar hypoplasia | |
| HP:0002198 | Dilated fourth ventricle | |
| HP:0011427 | Enlarged fetal cisterna magna | |
| HP:0005445 | Enlarged posterior fossa | |
| HP:0002007 | Frontal bossing | |
| HP:0010952 | Mild fetal ventriculomegaly | |
| Occasional (29-5%) | ||
| HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | |
| HP:0000175 | Cleft palate | |
| HP:0002084 | Encephalocele | |
| HP:0002516 | Increased intracranial pressure | |
| HP:0001249 | Intellectual disability | |
| HP:0001270 | Motor delay | |
| Very rare (<4-1%) | ||
| HP:0000639 | Nystagmus | |
| HP:0002078 | Truncal ataxia | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 33168220[PMID]_30855785[PMID]_24132069[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/217
- This record as JSON: /data/d/217.json