Living with Megalencephaly-capillary malformation-polymicrogyria syndrome
A condition with a large brain, pink or red skin marks from small blood vessels, and overgrowth of some body parts.
Understanding Megalencephaly-capillary malformation-polymicrogyria syndrome
The main features are a large brain (megalencephaly) and malformed tiny blood vessels in the skin that look like pink or red spots. Growth of the head is fast in early years, then slows. Brain differences can include fluid buildup, Chiari malformation, and polymicrogyria. Most people have intellectual disability, and some have seizures or low muscle tone. It starts in pregnancy and the newborn period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Large head size (macrocephaly)
- Pink or red skin spots (capillary malformations)
- Developmental delay and intellectual disability
- Uneven growth of the face or body
- Extra or joined fingers and toes
- Loose joints
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, cancer specialists, genetic specialists and hormone specialists.
- 3Consider genetic testing
Changes in PIK3CA are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Cancer specialists (oncologists); Genetic specialists (geneticists); Hormone specialists (endocrinologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Klippel-Trenaunay Support Group and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the PIK3CA gene cause this condition.
Also known as: m-cm - macrocephaly capillary malformation; macrocephaly-capillary malformation; macrocephaly-capillary malformation syndrome; macrocephaly-capillary malformation syndrome (m-cm, mcap); macrocephaly-cutis marmorata telangiectatica congenita; macrocephaly-cutis marmorata telangiectatica congenita syndrome
Patient organizations
- Klippel-Trenaunay Support GroupMegalencephaly-capillary malformation-polymicrogyria syndrome · United States
- M-CM NetworkMegalencephaly-capillary malformation-polymicrogyria syndrome · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Megalencephaly-capillary malformation-polymicrogyria syndrome.
Explore research for Megalencephaly-capillary malformation-polymicrogyria syndrome
Explore actively recruiting Megalencephaly-capillary malformation-polymicrogyria syndrome studies with HealthSpark.
Find actively recruiting studies for Megalencephaly-capillary malformation-polymicrogyria syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Megalencephaly-capillary malformation-polymicrogyria syndrome studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Megalencephaly-capillary malformation-polymicrogyria syndrome
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Megalencephaly-capillary malformation-polymicrogyria syndrome experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.