Port-wine nevi-mega cisterna magna-hydrocephalus syndrome
Synonyms: Nova syndrome
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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
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Port-wine nevi-mega cisterna magna-hydrocephalus syndrome?
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Moonshots for Unicorns
Curing single-gene disorders
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
Project FAVA is a 501(c)(3) non-profit patient advocacy group that promotes awareness of fibro-adipose vascular anomalies, educates patients, their families, and the global community, and provides helpful resources to those with FAVA. Project FAVA also advances research to move the needle towards more effective and less invasive treatment options for FAVA patients.
Collaborative Research Advocacy for Vascular Anomalies Network (CaRAVAN)
As the research-based umbrella organization for all vascular anomalies, we are on a mission to develop a unified network of patients and their families, advocates, researchers, and clinicians who influence research from initial concept and design to patient care delivery
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
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