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Bilateral frontoparietal polymicrogyria

Congenital Malformations and Chromosomal Abnormalities

Bilateral frontoparietal polymicrogyria, often shortened to BFPP, is a genetic disorder with autosomal recessive inheritance that causes a malformation of the cerebral cortex. The healthy brain has folds in the cortex, called gyri, that increase its surface area; in polymicrogyria the normal pattern is replaced by an excessive number of small, fused gyri separated by shallow grooves, with abnormal layering of the cortex. Research has traced BFPP to mutations in GPR56, a member of the adhesion G protein-coupled receptor family. The mutations occur in different regions of the protein, and no relationship has been found between where the mutation lies and how severe the condition is. GPR56 also appears to play a role in patterning the cortex during development.

Facts
Classification
Body System
Nervous System 1
ICD-10 Chapter
XVII: Congenital Malformations, Deformations and Chromosomal Abnormalities 1
Communicable or Non-communicable
Non-Communicable 1
Causative Agent
Causative Agent (category)
Genetic / Hereditary 1
Sources
1. Bilateral frontoparietal polymicrogyria (Wikipedia)
  • Lead
    a cortical malformation
  • Lead [causative-agent-category]
    is a genetic disorder with autosomal recessive inheritance
  • lead sentence 1
    Bilateral frontoparietal polymicrogyria is a genetic disorder with autosomal recessive inheritance that causes a cortical malformation.
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