Spina bifida: risk factors

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

Spina bifida: risk factors. MTHFR, VANGL1, VANGL2, FUZ, CCL2, CELSR1, TBXT. Fully referenced neurology checklist.

Genetic mutations

  • MTHFR
  • VANGL1
  • VANGL2
  • FUZ 
  • CCL2
  • CELSR1 
  • TBXT 

Other genetic risk factors

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Maternal vitamin and mineral deficiencies

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Maternal co-morbidities

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Maternal drugs and toxins exposure

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Possible risk factors

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Curranino syndrome

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References

  1. Mitchell LE, Adzick NS, Melchionne J, Pasquariello PS, Sutton LN, Whitehead AS. Spina bifida. Lancet 2004; 364:1885–1895.
  2. Northrup H, Volcik KA. Spina bifida and other neural tube defects. Curr Probl Pediatr 2000; 30:313-332.
  3. Hassan AS, Du YL, Lee SY, Wang A, Farmer DL. Spina bifida: a review of the genetics, pathophysiology and emerging cellular therapies. J Dev Biol 2022; 10:22.
  4. Kole MJ, Fridley JS, Jea A, Bollo RJ. Currarino syndrome and spinal dysraphism. J Neurosurg Pediatr 2014; 13:685-689.

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