Overview
Macrocephaly-intellectual disability-left ventricular non compaction syndrome is an extremely rare genetic condition that affects multiple body systems. The name describes its three main features: macrocephaly (a head that is larger than expected), intellectual disability (difficulty with learning and thinking skills), and left ventricular non compaction (a heart condition where the heart muscle has a spongy, abnormal texture instead of being smooth and compact). Left ventricular non compaction, sometimes called LVNC, means the lower left chamber of the heart did not develop properly during fetal life, which can affect how well the heart pumps blood. Children with this syndrome may show developmental delays early in life, including delays in reaching milestones like sitting, walking, and talking. The intellectual disability can range from mild to more significant. The heart involvement can lead to problems such as heart failure, abnormal heart rhythms, or blood clots, though the severity varies from person to person. There is currently no cure for this condition. Treatment focuses on managing each symptom individually. Heart problems are treated by cardiologists, who may prescribe medications to support heart function or prevent complications. Developmental delays and intellectual disability are addressed through early intervention programs, speech therapy, occupational therapy, and special education services. Regular monitoring by a team of specialists is essential to catch and manage complications early.
Key symptoms:
Larger than normal head sizeIntellectual disabilitySpongy or abnormal heart muscle in the left ventricleDelayed speech and language developmentDelayed motor milestones like walkingLearning difficultiesHeart failure symptoms such as shortness of breath or fatigueAbnormal heart rhythmsDistinctive facial featuresLow muscle toneSeizures in some casesBehavioral difficultiesPoor feeding in infancy
Clinical phenotype terms (50)— hover any for plain English
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for Macrocephaly-intellectual disability-left ventricular non compaction syndrome.
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Specialists
View all specialists →No specialists are currently listed for Macrocephaly-intellectual disability-left ventricular non compaction 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 Macrocephaly-intellectual disability-left ventricular non compaction 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.How severe is my child's heart condition, and how often should it be monitored?,What signs of heart failure or dangerous heart rhythms should I watch for at home?,What therapies and early intervention services do you recommend for developmental delays?,Are there any activity or exercise restrictions due to the heart condition?,Should other family members be tested for this genetic change?,What is the long-term outlook for my child's heart and development?,Are there any clinical trials or research studies we could participate in?
Common questions about Macrocephaly-intellectual disability-left ventricular non compaction syndrome
What is Macrocephaly-intellectual disability-left ventricular non compaction syndrome?
Macrocephaly-intellectual disability-left ventricular non compaction syndrome is an extremely rare genetic condition that affects multiple body systems. The name describes its three main features: macrocephaly (a head that is larger than expected), intellectual disability (difficulty with learning and thinking skills), and left ventricular non compaction (a heart condition where the heart muscle has a spongy, abnormal texture instead of being smooth and compact). Left ventricular non compaction, sometimes called LVNC, means the lower left chamber of the heart did not develop properly during fe
How is Macrocephaly-intellectual disability-left ventricular non compaction syndrome inherited?
Macrocephaly-intellectual disability-left ventricular non compaction syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Macrocephaly-intellectual disability-left ventricular non compaction syndrome typically begin?
Typical onset of Macrocephaly-intellectual disability-left ventricular non compaction syndrome is infantile. Age of onset can vary across affected individuals.