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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Neural tube defects

*

* Not a rare disease

Other Names for this Disease

  • Dysraphism
  • NTDs
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Neural tube defects (NTDs) refers to a group of abnormalities resulting from abnormal development of the brain, spine and/or spinal column. During the development of an affected embryo, a structure called the neural tube does not close completely as it should, resulting in a hole somewhere along the spinal column. Specific examples of types of NTDs include spina bifida, anencephaly, and encephalocele. Symptoms vary depending on the type of NTD present but often include various forms of physical and/or mental disabilities. Many affected individuals do not survive. The exact cause of NTDs is not known but is thought to involve both genetic and nongenetic factors. Getting enough folic acid before and during pregnancy can reduce the risk of some NTDs. Treatment depends on the severity and type of defect and may include surgery.[1]
Last updated: 11/6/2013

References

  1. Neural Tube Defects (NTDs): Condition Information. NICHHD. November 30, 2012; http://www.nichd.nih.gov/health/topics/ntds/conditioninfo/Pages/default.aspx. Accessed 11/5/2013.
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Basic Information

In Depth Information

  • Medscape Reference provides information on this topic. Click on the link to view this information. 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 Neural tube defects. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Dysraphism
  • NTDs
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.