Megalencephaly-capillary malformation-polymicrogyria syndrome

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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: // Data version September 2023.

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Advocacy Organizations


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.

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.


Educate and provide resources to POC with Rare Cancers

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.

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

Clinical Trials

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