X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome
Synonyms: Pettigrew Syndrome
A rare central nervous system malformation characterized by severe intellectual deficit early hypotonia with progression to spasticity and contractures choreoathetosis seizures dysmorphic face (long face with prominent forehead) and brain imaging abnormalities such as Dandy-Walker malformation and iron deposition.
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 October 2023.
Newly diagnosed with
X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome?
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Advocacy Organizations
Dandy Walker Institute
research genetic testing and finding cures to improve treatment outcomes
DDX3X Foundation
Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Moonshots for Unicorns
Curing single-gene disorders
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
Clinical Trials
For a list of clinical trials in this disease area, please click here.