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Diseases

Genetic and Rare Diseases Information Center (GARD)

Craniorachischisis


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Overview

Craniorachischisis is the most severe type of neural tube defect in which both the brain and spinal cord remain open; both anencephaly and spina bifida (from the cervical region to the lumbar or sacral region of the spine) are present.[1][2] Fetuses with craniorachischisis often miscarry during pregnancy or die shortly after birth.[2] The cause is thought to be multifactorial, which means that a combination of genetic and non-genetic factors play a role.[1]
Last updated: 11/5/2013

References

  1. Craniorachischisis. Orphanet. January, 2010; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=63260. Accessed 11/4/2013.
  2. Johnson KM, Suarez L, Felkner MM, Hendricks K. Prevalence of craniorachischisis in a Texas-Mexico border population. Birth Defects Res A Clin Mol Teratol. February, 2004; 70(2):92-94. Accessed 11/5/2013.
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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.
  • 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 Craniorachischisis. Click on the link to view a sample search on this topic.
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.