proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome

Term ID

DOID:0111666

Synonyms

• cerebral proliferative glomeruloid vasculopathy
• encephaloclastic proliferative vasculopathy
• EPV
• Fowler syndrome
• Fowler vasculopathy
• hydranencephaly, Fowler type
• hydrocephaly/hydranencephaly due to cerebral vasculopathy
• proliferative vasculopathy and hydranencephaly/hydrocephaly
• PVHH

Definition

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. https://www.ncbi.nlm.nih.gov/pubmed/20206334

References

• MEDDRA:10071718
• MESH:C565593
• MIM:225790
• ORDO:221126
• UMLS_CUI:C1856972

Ontology

Human Disease   ( DOID:0111666 )