Pachygyria-intellectual disability-epilepsy syndrome

Get in touch with RARE Concierge.

Contact RARE Concierge

Synonyms: Kuzniecky syndrome

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version June 2024

Newly diagnosed with
Pachygyria-intellectual disability-epilepsy syndrome?

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

Advocacy Organizations

Don't see your organization here. Let us know here.

Clinical Trials

For a list of clinical trials in this disease area, please click here.