Dandy-Walker syndrome
Findings
No curated finding names Dandy-Walker syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Dandy-Walker malformation (DWM) is 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.
Definition from the Mondo Disease Ontology (MONDO:0009072), read 2026-09-29. CC BY 4.0.
Features
20 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Dandy-Walker malformationHPOHP:0001305
- Very frequent (80% to 99% of cases)
- HydrocephalusHPOHP:0000238
- Very frequent (80% to 99% of cases)
- MacrocephalyHPOHP:0000256
- Very frequent (80% to 99% of cases)
- PlatybasiaHPOHP:0002691
- Very frequent (80% to 99% of cases)
- Prominent occiputHPOHP:0000269
- Very frequent (80% to 99% of cases)
- Aplasia/Hypoplasia of the cerebellar vermisHPOHP:0006817
- Frequent (30% to 79% of cases)
- Cerebellar hypoplasiaHPOHP:0001321
- Frequent (30% to 79% of cases)
- Dilated fourth ventricleHPOHP:0002198
- Frequent (30% to 79% of cases)
- Enlarged fetal cisterna magnaHPOHP:0011427
- Frequent (30% to 79% of cases)
- Enlarged posterior fossaHPOHP:0005445
- Frequent (30% to 79% of cases)
- Frontal bossingHPOHP:0002007
- Frequent (30% to 79% of cases)
- Mild fetal ventriculomegalyHPOHP:0010952
- Frequent (30% to 79% of cases)
Show the remaining 8
- Aplasia/Hypoplasia of the corpus callosumHPOHP:0007370
- Occasional (5% to 29% of cases)
- Cleft palateHPOHP:0000175
- Occasional (5% to 29% of cases)
- EncephaloceleHPOHP:0002084
- Occasional (5% to 29% of cases)
- Increased intracranial pressureHPOHP:0002516
- Occasional (5% to 29% of cases)
- Intellectual disabilityHPOHP:0001249
- Occasional (5% to 29% of cases)
- Motor delayHPOHP:0001270
- Occasional (5% to 29% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ZIC1HGNC:12872
- Limited · Ambry Genetics · Autosomal dominant · 2018
Where it sits
Other names
2 names
Resolves to: Dandy-Walker syndrome
- Also called
- Dandy Walker MalformationDandy-Walker syndrome, Isolated cases