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Updated: Mar 19, 2026

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Chiari II brain malformation is secondary to open spina bifida

Maryam Clark1, Timothy J Edwards1, Dawn Savery1

  • 1Developmental Biology and Cancer Department, Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK.

Disease Models & Mechanisms
|March 18, 2026
PubMed

Insights

Chiari II brain malformation in children with spina bifida is caused by the spinal defect itself. This study shows that defects in the brain and skull arise secondary to open spina bifida.

Area of Science:

  • Developmental biology
  • Neuroscience
  • Genetics

Background:

  • Chiari II malformation occurs in 90% of children with open spina bifida.
  • This condition is linked to hydrocephalus and higher brain anomalies, including cerebral cortical defects contributing to learning disabilities in 20-25% of affected children.
  • The causal relationship between Chiari II and spina bifida remains debated.

Purpose of the Study:

  • To investigate whether Chiari II malformation develops secondary to open spina bifida.
  • To differentiate this from a separate effect of shared genetic or non-genetic factors.

Main Methods:

  • Conditional deletion of Pax3 gene function specifically in the lower body of mice using Cdx2cre.
  • Analysis of brain and skull development in Cdx2cre/+; Pax3fl/fl fetuses, which exhibit open spina bifida.

Main Results:

  • All Cdx2cre/+; Pax3fl/fl fetuses developed open spina bifida.
  • These fetuses also displayed Chiari II features in the brain and skull, including hindbrain herniation, hypogenesis of the corpus callosum and hippocampus, cortical thinning with neuronal heterotopia, a thickened ventricular zone, and posterior skull defects.
  • These findings indicate that Chiari II brain and skull defects are secondary to open spina bifida.

Conclusions:

  • The brain and skull defects characteristic of Chiari II malformation arise secondary to open spina bifida.
  • This suggests an early gestational disturbance in neurogenesis and neuronal migration.
  • The Cdx2cre/+; Pax3fl/fl mouse model offers a valuable tool for understanding Chiari II pathogenesis.

Keywords:
FetusMouseMyelomeningoceleNeural tube defectSkullTransgenic

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