Overview
Microcephaly-seizures-intellectual disability-heart disease syndrome is an extremely rare genetic condition that affects multiple body systems from birth. As the name describes, the main features include microcephaly (a smaller-than-expected head size), seizures, intellectual disability, and heart defects. Children born with this syndrome typically have a noticeably small head at birth or in early infancy, which reflects reduced brain growth. Seizures often begin in infancy or early childhood and can vary in type and severity. Intellectual disability ranges from moderate to severe, affecting learning, speech, and daily functioning. Heart defects present at birth (congenital heart disease) may include structural problems such as septal defects or other malformations that can affect how blood flows through the heart. Because this syndrome is so rare, there is limited published medical literature about it. Treatment is primarily supportive and symptom-based. Seizures are managed with anti-epileptic medications, heart defects may require surgical correction or monitoring by a cardiologist, and developmental therapies such as speech therapy, occupational therapy, and physical therapy are important for helping children reach their fullest potential. Early intervention programs can make a meaningful difference in quality of life. There is currently no cure or disease-modifying treatment available for this condition.
Key symptoms:
Abnormally small head size (microcephaly)Seizures or epilepsyIntellectual disabilityCongenital heart defectsDelayed speech and language developmentDelayed motor milestones such as sitting and walkingLearning difficultiesShort stature or poor growthBehavioral challengesFeeding difficulties in infancyLow muscle tone
Clinical phenotype terms (24)— 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-seizures-intellectual disability-heart disease syndrome.
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Specialists
View all specialists →No specialists are currently listed for Microcephaly-seizures-intellectual disability-heart disease 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-seizures-intellectual disability-heart disease 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.What type of heart defect does my child have, and will it need surgery?,What seizure medications are best for my child, and what side effects should I watch for?,How severe is the intellectual disability, and what developmental therapies do you recommend?,Should we pursue genetic testing, and what might the results tell us about our family's risk?,What emergency signs should I watch for at home?,Are there clinical trials or research studies that my child might be eligible for?,What support services and early intervention programs are available in our area?
Common questions about Microcephaly-seizures-intellectual disability-heart disease syndrome
What is Microcephaly-seizures-intellectual disability-heart disease syndrome?
Microcephaly-seizures-intellectual disability-heart disease syndrome is an extremely rare genetic condition that affects multiple body systems from birth. As the name describes, the main features include microcephaly (a smaller-than-expected head size), seizures, intellectual disability, and heart defects. Children born with this syndrome typically have a noticeably small head at birth or in early infancy, which reflects reduced brain growth. Seizures often begin in infancy or early childhood and can vary in type and severity. Intellectual disability ranges from moderate to severe, affecting l
How is Microcephaly-seizures-intellectual disability-heart disease syndrome inherited?
Microcephaly-seizures-intellectual disability-heart disease syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Microcephaly-seizures-intellectual disability-heart disease syndrome typically begin?
Typical onset of Microcephaly-seizures-intellectual disability-heart disease syndrome is neonatal. Age of onset can vary across affected individuals.