Promoting knowledge, awareness and patient-centered research about macrocephaly-capillary malformation syndrome to improve the lives of patients and their families
M-CM stands for macrocephaly-capillary malformation and MCAP stands for megalencephaly capillary malformation. These are two names for the same 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.
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.
Because M-CM / MCAP is extremely rare (we know of under 400 patients worldwide) and very complex, there is an enormous opportunity to improve care and medical management with improved education, research, and knowledge sharing. Our work strives to drive research that is centered on patient needs to improve the lives of patients living with this condition.
The M-CM Network maintains a contact registry that is used to keep patients connected to research opportunities. We have facilitated and funded a meeting of patient advocates and clinical researchers to develop clinical management guidance. We have also funded ongoing laboratory research projects for studying M-CM affected brain cells and the potential for drug treatment of hydrocephalus in M-CM. We can do so much more with your support!