Orphanet: Pachygyria intellectual disability epilepsy syndrome

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Pachygyria-intellectual disability-epilepsy syndrome

Disease definition

A rare, genetic neurological disorder characterized by the presence of diffuse pachygyria and arachnoid cysts, psychomotor developmental delay and intellectual disability. Seizures (absence, atonic and generalized tonic-clonic) and, on occasion, headache are also associated.


Classification level: Disorder
  • Synonym(s):
    • Kuzniecky syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Childhood
  • ICD-10: G40.4
  • OMIM: 600176
  • UMLS: C1838491
  • MeSH: -
  • GARD: 409
  • MedDRA: -
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