Hemimegalencephaly
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 April 2024
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Hemimegalencephaly?
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Advocacy Organizations
CLOVES Syndrome Community
The vision of CLOVES Syndrome Community (CSC) is an improved quality of life for those living with CLOVES syndrome. Our mission is to support, educate, empower and improve the lives of those affected by CLOVES syndrome.
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
Genetic Epilepsy Team Australia
Collaboration of research and care
Moonshots for Unicorns
Curing single-gene disorders
Pediatric Epilepsy Surgery Alliance
The Pediatric Epilepsy Surgery Alliance is a trusted source of information for parents and caregivers before and after epilepsy surgery. We’re with our families every step of the way from the point of drug resistance through the transition to adulthood and beyond. Our mission is to enhance the lives of children who need neurosurgery to treat medicationresistant epilepsy by empowering their fam
Project CASK
To fund research for treatment and/or a cure for CASK Gene Disorder
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
For a list of clinical trials in this disease area, please click here.