Conditions / Syndrome
proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome
info · Syndrome
A syndrome characterized by hydranencephaly, glomeruloid vasculopathy of the central nervous system and retinal vessels, diffuse clastic ischemic lesions of the brain stem, basal ganglia, and spinal cord with calcifications, and fetal akinesia with arthrogrypo
A syndrome characterized by hydranencephaly, glomeruloid vasculopathy of the central nervous system and retinal vessels, diffuse clastic ischemic lesions of the brain stem, basal ganglia, and spinal cord with calcifications, and fetal akinesia with arthrogryposis that has_material_basis_in homozygous or compound heterozygous mutation in the FLVCR2 gene on chromosome 14q24.3.
Signs and symptoms
- Ventriculomegaly
- Joint contracture
- Talipes
- Hydrocephalus
- Microcephaly
- Polyhydramnios
- Cerebellar hypoplasia
- Seizure
- Agenesis of corpus callosum
- Global developmental delay
Also known as: EPV; Fowler syndrome; Fowler vasculopathy; PVHH; cerebral proliferative glomeruloid vasculopathy