Fowler vasculopathy
Synonyms: Cerebral proliferative glomeruloid vasculopathy | Encephaloclastic proliferative vasculopathy | Hydrocephaly/hydranencephaly due to cerebral vasculopathy | Proliferative vasculopathy and hydranencephaly/hydrocephaly
A rare genetic neurological disorder characterized by hydranencephaly distinctive glomeruloid vasculopathy in the central nervous system and retina polyhydramnios and fetal akinesia with arthrogryposis. The disorder is usually prenatally lethal. In rare reported cases that survived beyond infancy severe intellectual and neurologic disability with seizures microcephaly and absence of functional movements were reported.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
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Fowler vasculopathy?
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Advocacy Organizations
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Moonshots for Unicorns
Curing single-gene disorders
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
Clinical Trials
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