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Isolated spina bifida

Synonym(s) -
Prevalence 1-5 / 10 000
Inheritance Multigenic/multifactorial
or Not applicable
Age of onset Infancy
  • Q05.0
  • Q05.1
  • Q05.2
  • Q05.3
  • Q05.4
  • Q05.5
  • Q05.6
  • Q05.7
  • Q05.8
  • Q05.9
  • C0080178
  • D016135
  • 10041524


Spina bifida is the most common of a group of birth defects called neural tube defects. The neural tube is the embryonic structure that develops into the brain and spinal cord. Often called open spine, spina bifida affects the backbone and, sometimes, the spinal cord. Aperta spina bifida defines the dorsal malclosure of vertebrae, associated with various degrees of spine defects. A pocket of skin may form, containing meninges (meningocele) or spinal cord and meninges (myelomeningocele). The disorder is most often located in the lumbar or sacral portion of the spine, and affects 2 or 3 vertebrae, although sometimes more. Consequences are paraplegia (paralysed lower limbs), hydrocephaly, Arnold-Chiari malformation (result of the attached spine during life in utero), urinary and anorectal incontinence. The intensity of signs varies greatly with the level and extent of the lesion. Prevalence reaches 0.5 for every 1,000 people in France. In Europe, the average recorded prevalence of Spina bifida is 5.09/10,000 births (including livebirths, stillbirths, and terminations of pregnancy following prenatal diagnosis). Palliative surgery is performed on affected infants, to which ventriculoperitoneal derivation can be added if hydrocephaly occurs. Management becomes much more complex for older patients. The disorder is caused by multiple factors. Studies show that intake of the B vitamin folic acid every day before and during early pregnancy, decreases the risk of neural tube defects (including spina bifida). Spina Bifida can be detected prenatally by ultrasound examination of the fetal spine.

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