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Bilateral frontoparietal polymicrogyria


Other Names for this Disease
  • BFPP
  • Cerebellar ataxia with neuronal migration defect
Related Diseases
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Overview

Bilateral frontoparietal polymicrogyria (BFPP) is a rare neurological disorder that affects the cerebral cortex (the outer surface of the brain). BFPP specifically affects the frontal and parietal lobes on both sides of the brain (bilateral). Signs and symptoms typically include moderate to severe intellectual disability, developmental delay, seizures, cerebellar ataxia, strabismus, and dysconjugate gaze (eyes that are not aligned). Some cases are caused by mutations in the GPR56 gene and are inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.[1][2]
Last updated: 6/8/2015

References

  1. Chang B, Walsh CA, Apse K & Bodell A. Polymicrogyria Overview. Gene Reviews. August 6, 2007; http://www.ncbi.nlm.nih.gov/books/NBK1329/. Accessed 3/9/2015.
  2. POLYMICROGYRIA, BILATERAL FRONTOPARIETAL; BFPP. OMIM. April 2014; http://omim.org/entry/606854.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Bilateral frontoparietal polymicrogyria. This website is maintained by the National Library of Medicine.

In Depth Information

  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Bilateral frontoparietal polymicrogyria. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • BFPP
  • Cerebellar ataxia with neuronal migration defect
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.