Fowler vasculopathy

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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 June 2024

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Fowler vasculopathy?

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Advocacy Organizations

Project CASK

VISION Project CASK believes in a world free of the life limitations and debilitating effects of CASK gene disorders. ​MISSION To accelerate breakthroughs in research to develop treatments and a cure for CASK gene disorders. ​VALUES Collaboration. Transparency. Urgency.

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Clinical Trials

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