Autosomal recessive frontotemporal pachygyria

Get in touch with RARE Concierge.

Contact RARE Concierge

Autosomal recessive frontotemporal pachygyria

A cerebral malformation characterized by symmetric bilateral pachygyria with normal head circumference and without polymicrogyria. Clinical manifestations include developmental delay moderate intellectual disability normal or slightly decreased muscle tone and deep-tendon reflexes telecanthus or hypertelorism.

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: // Data version September 2023.

Newly diagnosed with
Autosomal recessive frontotemporal pachygyria?

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

Clinical Trials

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