Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome

Common Name(s)

Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome

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 (summary by {6:Meyer et al., 2010}). Rarely, affected individuals may survive, but are severely impaired with almost no neurologic development ({4:Kvarnung et al., 2016}).
 

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome" for support, advocacy or research.

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Scientific Literature

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Reviews from the PubMed Database

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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