Overview
Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome is an extremely rare genetic condition that affects multiple body systems, primarily the brain and the heart. The name describes its three main features: microcephaly (a smaller-than-expected head size, which reflects reduced brain growth), cerebellar hypoplasia (underdevelopment of the cerebellum, the part of the brain that controls balance and coordination), and cardiac conduction defects (problems with the electrical signals that control the heartbeat). Children born with this syndrome typically show signs from birth or early infancy. They may have significant developmental delays, intellectual disability, problems with movement and coordination, and heart rhythm abnormalities that can range from mild to life-threatening. Because this condition is so rare, the medical understanding of it is still evolving. There is currently no cure, and treatment focuses on managing individual symptoms. This may include cardiac monitoring and treatment for heart rhythm problems, physical and occupational therapy for motor difficulties, speech therapy, and special education support. A team of specialists working together is essential for providing the best possible care. The condition is also sometimes classified under broader groups of syndromes involving brain malformations with cardiac defects.
Key symptoms:
Abnormally small head sizeDevelopmental delaysIntellectual disabilityPoor balance and coordinationAbnormal heart rhythmDifficulty with movement and motor skillsSeizuresLow muscle toneFeeding difficulties in infancySpeech and language delaysShort stature or poor growthVision problemsHearing difficulties
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-cerebellar hypoplasia-cardiac conduction defect syndrome.
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Specialists
View all specialists →No specialists are currently listed for Microcephaly-cerebellar hypoplasia-cardiac conduction defect 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-cerebellar hypoplasia-cardiac conduction defect 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 heart conduction problem, and does it require a pacemaker?,What brain abnormalities were found on the MRI, and what do they mean for my child's development?,What therapies should we start right away to support my child's development?,How often should my child have cardiac monitoring and follow-up?,Are there any clinical trials or research studies we could participate in?,What genetic testing should other family members consider?,What emergency signs should I watch for at home?
Common questions about Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome
What is Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome?
Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome is an extremely rare genetic condition that affects multiple body systems, primarily the brain and the heart. The name describes its three main features: microcephaly (a smaller-than-expected head size, which reflects reduced brain growth), cerebellar hypoplasia (underdevelopment of the cerebellum, the part of the brain that controls balance and coordination), and cardiac conduction defects (problems with the electrical signals that control the heartbeat). Children born with this syndrome typically show signs from birth or e
How is Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome inherited?
Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome typically begin?
Typical onset of Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome is neonatal. Age of onset can vary across affected individuals.