Our 2018 Research Agenda

We are fundraising for three groundbreaking projects. Learn more »

Our goal: $200,000

$49,215  

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

Announcing New 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 »

Mike O’Donnell Joins Our Board of Directors

We are pleased to announce the addition of Mike O’Donnell to our Board of Directors. Mike will work with us on business planning to help expand the capabilities and resilience of the M-CM Network. Read more »

Clinical Trial Opportunity

A clinical trial, “A Phase 1/2 Study of ARQ 092 in Patients with Overgrowth Diseases and Vascular Anomalies with Genetic Alterations of the PI3K/AKT Pathway” is enrolling at Boston Children's Hospital. More information »

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.