FLVCR2

Also known as

  • Fowler syndrome/Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome(PVHH)

A rare prenatally lethal disorder

Condition details

A rare 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. Hydranencephaly is a condition where the greater portions of the cerebral hemispheres and corpus striatum are replaced by cerebrospinal fluid and glial tissue.

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Photos of affected individuals

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  • No baby imageBaby
  • No toddler imageToddler
  • No child 4-10 imageChild 4-10
  • No child 10-18 imageChild 10-18
  • No adult imageAdult

Typical age range of first manifestation

  • Can manifest in Baby
  • Does not manifest in Toddler
  • Does not manifest in Child 4-10
  • Does not manifest in Child 10-18
  • Does not manifest in Adult

Symptoms

Affected genes identified to date

Inheritance patterns

Is Autosomal recessive

Are carriers affected?

No

How many are affected?

NA

Support groups and organisations

No groups found

Known experts

No experts found

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