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Genetic and Rare Diseases Information Center (GARD)

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Pachygyria


Other Names for this Disease

  • Broad gyri of cerebrum
  • Large gyri of cerebrum
  • Macrogyria
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Overview

Pachygyria is a developmental condition due to abnormal migration of nerve cells (neurons) in the developing brain and nervous system.[1] With pachygyria, there are few gyri (the ridges between the wrinkles in the brain), and they are usually broad and flat. The condition is also known as "incomplete lissencephaly."[2][3] Pachygyria may occur alone (isolated) or as part of various underlying syndromes. Symptoms vary among affected people and may include moderate to severe developmental delay, seizures, poor muscle tone and control, feeding or swallowing difficulties, and small head size (microcephaly).[1][3] In most cases it is not inherited, but various inheritance patterns have been reported.[1][4] Treatment is symptomatic and supportive.[1][2]
Last updated: 2/20/2014

References

  1. NINDS Neuronal Migration Disorders Information Page. National Institute of Neurological Disorders and Stroke (NINDS) Web site. 2007; http://www.ninds.nih.gov/health_and_medical/disorders/neuronal_migration.htm. Accessed 8/18/2009.
  2. Grainger & Allison's Diagnostic Radiology: A Textbook of Medical Imaging, 4th ed.. 2001;
  3. Pachygyria. The Cortical Foundation. 2012; http://cortfoundation.org/cms/pachygyria/. Accessed 2/20/2014.
  4. Straussberg R, Gross S, Amir J, Gadoth N. A new autosomal recessive syndrome of pachygyria. Clin Genet. 1996; http://www.ncbi.nlm.nih.gov/pubmed/9147882. Accessed 8/18/2009.
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Basic Information

In Depth Information

  • The 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. 
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Pachygyria. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Broad gyri of cerebrum
  • Large gyri of cerebrum
  • Macrogyria
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.