Overview
Microcephaly-cardiomyopathy syndrome is an extremely rare genetic condition in which a baby is born with an abnormally small head (microcephaly) along with a weakened or enlarged heart muscle (cardiomyopathy). The small head size reflects reduced brain growth, which typically leads to intellectual disability and developmental delays. The heart problems can range from a thickened heart muscle (hypertrophic cardiomyopathy) to a dilated, weakened heart (dilated cardiomyopathy), both of which can impair the heart's ability to pump blood effectively. Additional features that have been reported in some affected individuals include short stature, seizures, and distinctive facial features. Because so few cases have been described in the medical literature, the full range of symptoms and their severity is not completely understood. There is currently no cure for this condition. Treatment focuses on managing symptoms, particularly supporting heart function with medications and addressing developmental delays through early intervention therapies such as physical therapy, occupational therapy, and speech therapy. Regular monitoring by a team of specialists is essential to manage the complex needs of affected individuals. The condition is also sometimes referred to as microcephaly with cardiomyopathy.
Also known as:
Key symptoms:
Abnormally small head at birthWeakened or enlarged heart muscleIntellectual disabilityDelayed development of motor skillsDelayed speech and languageShort statureSeizuresPoor weight gain and failure to thriveDistinctive facial featuresLow muscle toneBreathing difficulties related to heart problemsFatigue and poor feeding in infancy
Clinical phenotype terms (15)— hover any for plain English
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-cardiomyopathy syndrome.
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Specialists
View all specialists →No specialists are currently listed for Microcephaly-cardiomyopathy 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-cardiomyopathy 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
Rare disease caregiving can be isolating. Connect with counseling and peer support.
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.How severe is my child's cardiomyopathy, and what type is it?,What signs of heart failure should I watch for at home?,Are there genetic tests that can identify the exact cause in our family?,What developmental therapies should we start, and how often?,Is my child at risk for seizures, and how would we manage them?,What is the long-term outlook for my child's heart and brain development?,If we plan to have more children, what is the chance they could be affected?
Common questions about Microcephaly-cardiomyopathy syndrome
What is Microcephaly-cardiomyopathy syndrome?
Microcephaly-cardiomyopathy syndrome is an extremely rare genetic condition in which a baby is born with an abnormally small head (microcephaly) along with a weakened or enlarged heart muscle (cardiomyopathy). The small head size reflects reduced brain growth, which typically leads to intellectual disability and developmental delays. The heart problems can range from a thickened heart muscle (hypertrophic cardiomyopathy) to a dilated, weakened heart (dilated cardiomyopathy), both of which can impair the heart's ability to pump blood effectively. Additional features that have been reported in s
How is Microcephaly-cardiomyopathy syndrome inherited?
Microcephaly-cardiomyopathy syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Microcephaly-cardiomyopathy syndrome typically begin?
Typical onset of Microcephaly-cardiomyopathy syndrome is neonatal. Age of onset can vary across affected individuals.