Autosomal recessive
Caused by changes in both copies of FLVCR2, a transporter needed for normal blood vessel development in the brain. Also called proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome.
Signs and symptoms
Detected in pregnancy as severe hydrocephaly or hydranencephaly with brain tissue loss. Reduced fetal movement leads to fixed joints (arthrogryposis). The disorder is considered prenatally lethal, although a few patients have survived beyond infancy with severe disability.
What a diagnosis changes
Diagnosis allows informed pregnancy decisions and counselling. Carrier testing of relatives and testing in future pregnancies, including early prenatal or preimplantation testing, are possible once both familial variants are known.
Genes analysed
Also known as
cerebral proliferative glomeruloid vasculopathy; Encephaloclastic proliferative vasculopathy; hydrocephaly/hydranencephaly due to cerebral vasculopathy; proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome; proliferative vasculopathy and hydranencephaly/hydrocephaly; PVHH
