port-wine nevi-mega cisterna magna-hydrocephalus syndrome
Findings
No curated finding names port-wine nevi-mega cisterna magna-hydrocephalus syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.
Definition from the Mondo Disease Ontology (MONDO:0100367), read 2026-09-29. CC BY 4.0.
Features
10 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.
- Abnormal cerebellar vermis morphologyHPOHP:0002334
- Very frequent (80% to 99% of cases)
- Capillary hemangiomaHPOHP:0005306
- Very frequent (80% to 99% of cases)
- Cerebellar hypoplasiaHPOHP:0001321
- Very frequent (80% to 99% of cases)
- Cerebral cortical atrophyHPOHP:0002120
- Very frequent (80% to 99% of cases)
- Cerebral cortical hemiatrophyHPOHP:0100308
- Very frequent (80% to 99% of cases)
- Enlarged fetal cisterna magnaHPOHP:0011427
- Very frequent (80% to 99% of cases)
Where it sits
Other names
1 name
Resolves to: port-wine nevi-mega cisterna magna-hydrocephalus syndrome
- Also called
- nova syndrome