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port-wine nevi-mega cisterna magna-hydrocephalus syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

port-wine nevi-mega cisterna magna-hydrocephalus syndrome

MONDO:0100367

Also known as:nova syndrome

Overview

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.

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include very common findings: Cerebellar hypoplasia, Cerebral cortical atrophy, Abnormal cerebellar vermis morphology, and Capillary hemangioma and others; and common findings: Hydrocephalus. 10 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	5	Cerebral cortical atrophy, Subcortical cerebral atrophy, Cerebral cortical hemiatrophy

Diagnosis

Biomarker and diagnostic research for port-wine nevi-mega cisterna magna-hydrocephalus syndrome has been reported in the published literature.

Prognosis

Phenotype severity distribution: 8 very common features, 1 common feature.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for port-wine nevi-mega cisterna magna-hydrocephalus syndrome.

105 publications have been identified in PubMed for port-wine nevi-mega cisterna magna-hydrocephalus syndrome. Research spans Review / Meta-Analysis (57%), Clinical Trial Publication (10%), and Basic Science / Preclinical (9%).

Research Type	Count	% of Total
Research summaries	60	57%

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 5:41 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:2703

GARD

Genetic and Rare Diseases Info Center

GARD:4014

Questions for Your Care Team

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Kisho

port-wine nevi-mega cisterna magna-hydrocephalus syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

port-wine nevi-mega cisterna magna-hydrocephalus syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications