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Updated: Oct 12, 2025

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Syndromic Hydrocephalus.

Kaamya Varagur1, Sai Anusha Sanka2, Jennifer M Strahle2

  • 1Department of Neurosurgery, Washington University School of Medicine, Washington University in Saint Louis, 660 South Euclid Avenue, Campus Box 8057, St Louis, MO 63110, USA. Electronic address: https://twitter.com/kaamyavaragur.

Neurosurgery Clinics of North America
|November 21, 2021
PubMed
Summary
This summary is machine-generated.

Syndromic hydrocephalus, a brain fluid buildup, is linked to various genetic disorders. This review details the genetic causes, symptoms, and mechanisms of hydrocephalus in several specific genetic syndromes.

Keywords:
HydrocephalusHydrocephalus geneticsSyndromic hydrocephalus

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Area of Science:

  • Neuroscience
  • Genetics
  • Pediatrics

Background:

  • Hydrocephalus is the abnormal accumulation of cerebrospinal fluid (CSF).
  • It is a common feature in many genetic syndromes.
  • Impaired CSF circulation or clearance underlies this condition.

Purpose of the Study:

  • To review genetic mutations causing syndromic hydrocephalus.
  • To outline the pathogenesis and symptoms of syndromic hydrocephalus.
  • To discuss emerging genetic variants linked to this condition.

Main Methods:

  • Literature review of genetic syndromes associated with hydrocephalus.
  • Analysis of genetic mutations, pathogenesis, and clinical features.
  • Synthesis of information on L1 syndrome, craniosynostoses, achondroplasia, NF 1/2, Down syndrome, tuberous sclerosis, Walker-Warburg syndrome, primary ciliary dyskinesia, and osteogenesis imperfecta.

Main Results:

  • Identified specific genetic mutations responsible for hydrocephalus in various syndromes.
  • Detailed the common pathogenic pathways and associated symptoms.
  • Highlighted emerging genetic variants contributing to syndromic hydrocephalus.

Conclusions:

  • Syndromic hydrocephalus results from diverse genetic etiologies.
  • Understanding these genetic underpinnings is crucial for diagnosis and management.
  • Further research into novel genetic variants will advance treatment strategies.