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Diseases

Genetic and Rare Diseases Information Center (GARD)

Corpus callosum agenesis


Other Names for this Disease
  • Agenesis of the corpus callosum
  • Isolated corpus callosum agenesis
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Overview

Corpus callosum agenesis is a birth defect in which the structure that connects the two sides of the brain (the corpus callosum) is partially or completely absent. This birth defect can occur as an isolated condition or combined with other cerebral abnormalities, including Arnold-Chiari malformation, Dandy-Walker syndrome, schizencephaly (clefts or deep divisions in brain tissue), and holoprosencephaly (failure of the forebrain to divide into lobes.)  Aicardi syndrome, which only affect girls, includes corpus callosum agenesis, and other problems. Corpus callosum agenesis can also be associated with malformations in other parts of the body, such as midline facial defects. The effects of agenesis of the corpus callosum range from subtle or mild to severe, depending on associated brain abnormalities.[1] The exact cause is still unknown. Treatment usually involves management of symptoms and seizures if they occur.[1][2]
Last updated: 9/23/2014

References

  1. NINDS Agenesis of the Corpus Callosum Information Page. National Institute of Neurological Disorders and Stroke (NINDS). February 14, 2014; http://www.ninds.nih.gov/disorders/agenesis/agenesis.htm. Accessed 9/23/2014.
  2. Isolated corpus callosum agenesis. Orphanet. 2007; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=200.
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Basic Information

  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • 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 Corpus callosum agenesis. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Agenesis of the corpus callosum
  • Isolated corpus callosum agenesis
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.