Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly Syndrome

Alternative Names

  • PVHH
  • Hydranencephaly, Fowler Type
  • Fowler Syndrome
  • Hydrocephaly/Hydranencephaly Due to Cerebral Vasculopathy
  • Encephaloclastic Proliferative Vasculopathy
  • EPV
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations of the nervous system

OMIM Number

225790

Mode of Inheritance

Autosomal recessive

Gene Map Locus

14q24.3

Description

The proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome is a rare, autosomal recessive, usually prenatally lethal disorder characterized by hydranencephaly, a distinctive glomerular vasculopathy in the central nervous system and retina, and diffuse ischemic lesions of the brain stem, basal ganglia, and spinal cord with calcifications. It is usually diagnosed by ultrasound between 26 and 33 weeks' gestation. Rarely, affected individuals may survive, but are severely impaired with almost no neurologic development. [From OMIM]

Epidemiology in the Arab World

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