Megalencephaly-capillary malformation-polymicrogyria syndrome
Synonyms: MCAP | MCM | MCMTC | Macrocephaly-capillary malformation syndrome | Macrocephaly-cutis marmorata telangiectatica congenita syndrome | Megalencephaly-capillary malformation syndrome | Megalencephaly-cutis marmorata telangiectatica congenita syndrome
A rare developmental defect during embryogenesis that is characterized by growth dysregulation with overgrowth of the brain and multiple somatic tissues with capillary skin malformations megalencephaly (MEG) or hemimegalencephaly (HMEG) cortical brain abnormalities (in particular polymicrogyria) typical facial dysmorphisms abnormalities of somatic growth with asymmetry of the body and brain developmental delay and digital anomalies.
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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Megalencephaly-capillary malformation-polymicrogyria syndrome?
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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.
CMTC-OVM
CMTC-OVM is a worldwide non-profit patient organization that aims to improve the quality of life of people suffering from vascular abnormalities (blood vessel abnormalities), such as CMTC, their families, and stimulate scientific research into these 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.
Cache DNA
At Cache, we are on a mission to store the biomolecules of today in order to unlock the possibilities of tomorrow. Our vision is to create a scalable, sustainable, and standardized platform for reliable storage and access of biomolecules by combining chemistry, biology, automation, and computational tools to support patient advocacy groups worldwide and better connect samples to insights.
Collaborative Research Advocacy for Vascular Anomalies Network (CaRAVAN)
As the research-based umbrella organization for all vascular anomalies, we are on a mission to develop a unified network of patients and their families, advocates, researchers, and clinicians who influence research from initial concept and design to patient care delivery
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.
Help Hope Live
Help Hope Live assists individuals living with catastrophic injuries and illnesses to fundraise toward their medical expenses and related costs.
Moonshots for Unicorns
Curing single-gene disorders
My Faulty Gene
My Faulty Gene is a nonprofit organization which provides information and assistance to any individual whose family medical history suggests genetic testing might be helpful in identifying an increased risk of disease due to a genetic mutation. We believe that everyone in need of genetic testing should have access to it.
My Little Sunshine Foundation
My Little Sunshine is a non-profit foundation dedicated to educating people about the importance of fertility preservation and making fertility resources accessible to all.
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
Project FAVA
Project FAVA is a 501(c)(3) non-profit patient advocacy group that promotes awareness of fibro-adipose vascular anomalies, educates patients, their families, and the global community, and provides helpful resources to those with FAVA. Project FAVA also advances research to move the needle towards more effective and less invasive treatment options for FAVA patients.
SALUS
Educate and provide resources to POC with Rare Cancers
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.