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Genetic and Rare Diseases Information Center (GARD)

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Spina bifida

Other Names for this Disease
  • Cleft spine
  • Open spine
  • Rachischisis
  • Spinal dysraphism
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What causes spina bifida?

Spina bifida is a complex condition that is likely caused by the interaction of multiple genetic and environmental factors. Some of these factors have been identified, but many remain unknown. Changes in dozens of genes may influence the risk of spina bifida. The best-studied of these genes is MTHFR, which provides instructions for making the B-vitamin folate (also called folic acid or vitamin B9). Changes in other genes related to folate processing and genes involved in the development of the neural tube have also been studied as potential risk factors for spina bifida. However, none of these genes appears to play a major role in causing the condition.[1]

Researchers have also examined environmental factors that could contribute to the risk of spina bifida. A shortage (deficiency) of folate appears to play a significant role. Studies have shown that women who take supplements containing this vitamin before they get pregnant and very early in their pregnancy are significantly less likely to have a baby with spina bifida or a related neural tube defect. Other possible risk factors for spina bifida include diabetes mellitus, obesity, exposure to high heat (such as a fever or use of a hot tub or sauna) in early pregnancy, and the use of certain anti-seizure medications during pregnancy. However, it is unclear how these factors may influence the risk of spina bifida.[1]
Last updated: 5/9/2011

  1. Spina bifida. Genetics Home Reference. February 2011; Accessed 5/9/2011.