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 2026
Newly diagnosed with
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 community 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.
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
PPP2CA Pathways
PPP2CA Pathways connects families, shares strength, and supports the research community in the search for answers to Houge-Janssens Syndrome type 3.
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 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.
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Clinical Trials
For a list of clinical trials in this disease area, please click here.