Genetics of Hydrocephalus: Causal and Contributory Factors

  • Hannah Tully
  • Annie Laquerriere
  • Dan Doherty
  • William Dobyns


Hydrocephalus, as a multifactorial condition, can be caused or influenced by genetic factors at many levels. The best known genetic causes are mutations in genes such as L1CAM that cause hydrocephalus primarily through CSF obstruction. In these conditions, hydrocephalus is often severe, prenatal in onset, and may be the predominant clinical feature. Hydrocephalus may also be a feature of many genetic syndromes, such as the congenital muscular dystrophies, the RASopathies, and craniosynostosis syndromes. These conditions are usually identified on the basis of clinical features other than hydrocephalus, although those features may be overshadowed when ventricular dilatation is severe. Finally, acquired or multifactorial forms of hydrocephalus could conceivably be influenced by susceptibility genes. In this chapter, we focus first on genetic causes of severe, early-onset forms of hydrocephalus. We next address syndromes in which hydrocephalus may be an accompanying – but not the primary – clinical feature. Finally, we touch upon the notion of genetic variants that are not pathogenic in themselves, but could increase the likelihood of developing hydrocephalus in the presence of other risk factors.


Hydrocephalus Aqueductal stenosis Aqueductal atresia Aqueductal forking Brain malformations Heterotopia Susceptibility factors 


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Copyright information

© Springer Nature Switzerland AG 2019

Authors and Affiliations

  • Hannah Tully
    • 1
  • Annie Laquerriere
    • 2
  • Dan Doherty
    • 3
  • William Dobyns
    • 4
  1. 1.Department of NeurologyUniversity of Washington and Seattle Children’s Hospital, Center for Integrative Brain Research, Seattle Children’s Research InstituteSeattleUSA
  2. 2.Pathology Laboratory, Rouen University Hospital and Inserm Unit 1245, Team Genetics and Pathophysiology of Neurodevelopmental Disorders, IRIBRouenFrance
  3. 3.Department of PediatricsUniversity of Washington and Seattle Children’s Hospital, Center for Integrative Brain Research, Seattle Children’s Research InstituteSeattleUSA
  4. 4.Department of GeneticsUniversity of Washington, Center for Integrative Brain Research, Seattle Children’s Research InstituteSeattleUSA

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