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Fowler vasculopaty
Disease definition
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.
ORPHA:221126
Classification level: Disorder- Synonym(s):
- Cerebral proliferative glomeruloid vasculopathy
- Encephaloclastic proliferative vasculopathy
- Hydrocephaly/hydranencephaly due to cerebral vasculopathy
- Proliferative vasculopathy and hydranencephaly/hydrocephaly
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal recessive
- Age of onset: Antenatal, Neonatal
- ICD-10: -
- OMIM: 225790
- UMLS: C1856972 C3203738
- MeSH: -
- GARD: -
- MedDRA: 10071718
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