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Diseases

Genetic and Rare Diseases Information Center (GARD)

Anencephaly


Other Names for this Disease
  • Absence of a large part of the brain and the skull
  • Isolated anencephaly/exencephaly
Related Diseases
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Overview

Anencephaly is a type of neural tube defect characterized by abnormal development of the brain and the bones of the skull. The neural tube is a narrow channel that normally folds and closes between the 3rd and 4th weeks of pregnancy, forming the brain and spinal cord of the embryo. Anencephaly occurs when the 'cephalic' or head end of the neural tube fails to close, causing the absence of a major portion of the brain, skull, and scalp. Infants with this disorder are born without a forebrain (the front part of the brain) and a cerebrum (the thinking and coordinating part of the brain). The remaining brain tissue is often exposed (not covered by bone or skin). Affected babies are usually blind, deaf, unconscious, and unable to feel pain. Almost all babies with anencephaly die before birth, although some may survive a few hours or a few days after birth. Anencephaly is likely caused by an interaction between genetic and environmental factors, many of which remain unknown.[1][2][3]
Last updated: 8/31/2015

References

  1. NINDS Anencephaly Information Page. National Institute of Neurological Disorders and Stroke (NINDS). June 30, 2015; http://www.ninds.nih.gov/disorders/anencephaly/anencephaly.htm.
  2. Anencephaly. Orphanet. 2006; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1048. Accessed 11/28/2011.
  3. Anencephaly. Genetics Home Reference. November, 2014; http://ghr.nlm.nih.gov/condition/anencephaly.
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Basic Information

  • You can obtain information on this topic from the Centers for Disease Control and Prevention (CDC). The CDC is recognized as the lead federal agency for developing and applying disease prevention and control, environmental health, and health promotion and education activities designed to improve the health of the people of the United States.
  • Genetics Home Reference (GHR) contains information on Anencephaly. This website is maintained by the National Library of Medicine.
  • 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) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • 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 Anencephaly. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Absence of a large part of the brain and the skull
  • Isolated anencephaly/exencephaly
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.