Overview
Microcephaly-capillary malformation syndrome (also known as MIC-CAP syndrome) is an extremely rare genetic condition that affects brain development and blood vessels in the skin. Children born with this condition have an unusually small head (microcephaly) that becomes more noticeable over time, along with widespread small red or purple skin marks called capillary malformations (sometimes described as port-wine stains or birthmarks). These skin marks are caused by abnormally widened tiny blood vessels near the surface of the skin. The condition significantly affects brain development, leading to severe intellectual disability, seizures (epilepsy) that are often difficult to control, and very limited developmental progress. Children may also have low muscle tone (floppiness), difficulty feeding, and problems with movement. Some children develop swelling in the fingers and toes (distal edema) and may have unusual facial features. Unfortunately, there is currently no cure for MIC-CAP syndrome. Treatment focuses on managing symptoms, particularly controlling seizures with anti-epileptic medications, providing nutritional support (sometimes through a feeding tube), and offering physical and occupational therapy. The condition is progressive, meaning symptoms tend to worsen over time. Because it is so rare, research is still ongoing to better understand the disease and develop more effective treatments.
Key symptoms:
Unusually small head (microcephaly)Widespread red or purple birthmarks on the skin (capillary malformations)Severe intellectual disabilitySeizures that are hard to controlLow muscle tone (floppiness)Difficulty feedingDelayed or absent developmental milestonesSwelling of fingers and toesPoor growth and short statureAbnormal movementsUnusual facial featuresProgressive brain shrinkage visible on brain scansIrritability and excessive cryingVision problems
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Microcephaly-capillary malformation syndrome.
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Specialists
View all specialists →No specialists are currently listed for Microcephaly-capillary malformation syndrome.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Microcephaly-capillary malformation syndrome.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
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Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What is the best plan for managing my child's seizures, and what should I do if a seizure lasts too long?,Does my child need a feeding tube, and how will nutrition be monitored?,What therapies (physical, occupational, speech) would benefit my child?,Should our family have genetic counseling, and what does this mean for future pregnancies?,Are there any clinical trials or research studies we could participate in?,What palliative care or supportive services are available for our family?,How often should brain imaging and other tests be repeated to monitor the condition?
Common questions about Microcephaly-capillary malformation syndrome
What is Microcephaly-capillary malformation syndrome?
Microcephaly-capillary malformation syndrome (also known as MIC-CAP syndrome) is an extremely rare genetic condition that affects brain development and blood vessels in the skin. Children born with this condition have an unusually small head (microcephaly) that becomes more noticeable over time, along with widespread small red or purple skin marks called capillary malformations (sometimes described as port-wine stains or birthmarks). These skin marks are caused by abnormally widened tiny blood vessels near the surface of the skin. The condition significantly affects brain development, leading
How is Microcephaly-capillary malformation syndrome inherited?
Microcephaly-capillary malformation syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Microcephaly-capillary malformation syndrome typically begin?
Typical onset of Microcephaly-capillary malformation syndrome is neonatal. Age of onset can vary across affected individuals.