Hemimegalencephaly

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Synonyms: Unilateral megalencephaly

Hemimegalencephaly is a rare cerebral malformation characterized by overgrowth of all or part of a cerebral hemisphere often with ipsilateral severe cortical dysplasia or dysgenesis white matter hypertrophy and dilated lateral ventricle presenting in early infancy with progressive hemiparesis severe psychomotor retardation and intractable seizures. Hemimegalencephaly may be an isolated finding or associated with other syndromes such as angioosteohypertrophic syndrome epidermal nevus syndrome and Ito hypomelanosis (see these terms). Management includes seizure control by antiepileptic medications and early hemispherectomy.

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 February 2026

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Hemimegalencephaly?

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Advocacy Organizations

Pediatric Epilepsy Surgery Alliance

Pediatric Epilepsy Surgery Alliance is the only caregiver-led, science-driven nonprofit organization fully dedicated to the community of children who need neurosurgery to treat their medication-resistant seizures. We enhance the lives of children with drug-resistant epilepsy by empowering their families with research, support services, and impactful programs across the lifespan.

Project CASK

VISION Project CASK believes in a world free of the life limitations and debilitating effects of CASK gene disorders. ​MISSION To accelerate breakthroughs in research to develop treatments and a cure for CASK gene disorders. ​VALUES Collaboration. Transparency. Urgency.

TNPO2 Foundation

Develop personalized therapeutics for ultra rare genetic neurodevelopmental diseases, especially those arising from mutations in the TNPO2 gene.

Location: State State

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Clinical Trials

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