Rare Disease Day is February 28
Every year on Rare Disease Day, patients and advocates come together to spread awareness about issues affecting rare patients around the world. Get involved at RareDiseaseDay.org »
Our Research Agenda
We are fundraising for three groundbreaking projects. Learn more »
What is M-CM?
M-CM stands for macrocephaly-capillary malformation. It is a rare genetic syndrome that causes irregular growth in parts of the body and the brain. Specific effects and severity vary from person to person, but common characteristics are brain overgrowth, hypotonia (low muscle tone), and developmental delays. Many patients also have vascular birthmarks and body asymmetry.
Genetic Cause
M-CM is caused by mutations in a gene called PIK3CA that increase the activity of the gene. In most cases, these mutations happen spontaneously after conception, so that the gene is changed in a percentage of the body's cells. There are currently no known cases of inheritance. M-CM is one of many conditions caused by changes in PIK3CA and is part of a group of conditions known as PIK3CA-related overgrowth spectrum or PROS.
Many Names
This condition was first defined in 1997 as M-CMTC for macrocephaly-cutis marmorata telangiectatica congenita. In 2007, M-CM for macrocephaly-capillary malformation was proposed to more accurately describe the vascular involvement. A newer name, MCAP for megalencephaly-capillary malformation was proposed in a 2012 paper that is now widely used in genetics literature. These names, along with other variations, all refer to the same condition.
News
Report COVID-19 Cases
The SECURE-VA registry is collecting data about the effects of COVID-19 on vascular anomalies patients. If you or an M-CM / MCAP patient that you care for has recovered from COVID-19, please ask their doctor to submit their case to the registry. Learn more »
2021 M-CM Network Wall Calendar
Our 2021 calendar is available for purchase from print-on-demand service Lulu.com. It is a beloved community project featuring photos from nearly 100 patient families. Get yours now »
Wear That You Care
Visit our Bonfire storefront for a selection of t-shirts to spread awareness about rare disease and M-CM / MCAP. A portion of sales benefit the M-CM Network. Shop now »
Scientific Meeting for PIK3CA Related Conditions
On October 28-29, 2021 CLOVES Syndrome Community will host a virtual scientific meeting about PROS conditions. Learn more »
MCAP Added to SSA Compassionate Allowances List
The U.S. Social Security Administration has added megalencephaly-capillary malformation syndrome to a list of conditions for expedited processing of disability benefits claims. More information »
Genetic Testing Guidance
Our resource about genetic testing for M-CM is now available. Our objective in developing this new resource is to help families get the most appropriate testing and to understand their results. Visit our Genetic Testing page »
Newly diagnosed?
Join our contact registry.
This lets us keep you informed of new discoveries and opportunities to participate in research and clinical trials. It also helps us to know how many M-CM patients there are, and where they are. Join now.
Connect with the community.
The online patient community is a rich source of support and information. Groups on Facebook include
Get involved.
Patients can advance research by contributing tissue samples and enrolling in research studies and clinical trials. Learn about ways to fundraise for the M-CM Network, or let us know how you would like to help.
