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.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. 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.
Genetic Epilepsy Team Australia
Collaboration of research and care
Moonshots for Unicorns
Curing single-gene disorders
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
For a list of clinical trials in this disease area, please click here.