Syndromic Hydrocephalus

Neurosurg Clin N Am. 2022 Jan;33(1):67-79. doi: 10.1016/


Hydrocephalus, the abnormal accumulation and impaired circulation/clearance of cerebrospinal fluid, occurs as a common phenotypic feature of a diverse group of genetic syndromes. In this review, we outline the genetic mutations, pathogenesis, and accompanying symptoms underlying syndromic hydrocephalus in the context of: L1 syndrome, syndromic craniosynostoses, achondroplasia, NF 1/2, Down's syndrome, tuberous sclerosis, Walker-Warburg syndrome, primary ciliary dyskinesia, and osteogenesis imperfecta. Further, we discuss emerging genetic variants associated with syndromic hydrocephalus.

Keywords: Hydrocephalus; Hydrocephalus genetics; Syndromic hydrocephalus.

Publication types

  • Review

MeSH terms

  • Craniosynostoses*
  • Humans
  • Hydrocephalus* / genetics
  • Syndrome