Overview
Seizures-scoliosis-macrocephaly syndrome is an extremely rare genetic condition that affects multiple body systems, most notably the brain, skeleton, and overall growth. The name describes its three hallmark features: seizures (episodes of abnormal electrical activity in the brain), scoliosis (abnormal curvature of the spine), and macrocephaly (an unusually large head size). This condition is classified under disorders of glycoprotein metabolism (ICD-10 code E77.8), meaning it involves problems with how the body processes certain sugar-protein molecules. Children with this syndrome typically show signs early in life, including developmental delays, seizures that may be difficult to control, and a noticeably large head circumference. Over time, scoliosis may develop and can worsen as the child grows. Intellectual disability of varying degrees is also commonly seen. Other features may include distinctive facial features, low muscle tone, and difficulties with coordination and movement. Because this condition is so rare, there is currently no cure or disease-specific treatment. Management focuses on controlling seizures with anti-epileptic medications, monitoring and treating scoliosis (sometimes with bracing or surgery), and providing developmental support through physical therapy, occupational therapy, and speech therapy. A team of specialists is usually needed to address the various aspects of this syndrome. Research into the underlying genetic and metabolic causes is ongoing, which may eventually lead to more targeted therapies.
Also known as:
Key symptoms:
Seizures or epilepsyAbnormal curvature of the spine (scoliosis)Unusually large head size (macrocephaly)Intellectual disabilityDevelopmental delaysLow muscle tone (floppiness)Distinctive facial featuresDifficulty with coordination and balanceSpeech and language delaysDelayed motor milestones such as sitting and walkingBehavioral difficultiesProblems with fine motor skills
Clinical phenotype terms (31)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for Seizures-scoliosis-macrocephaly syndrome.
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Specialists
View all specialists →No specialists are currently listed for Seizures-scoliosis-macrocephaly 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 Seizures-scoliosis-macrocephaly 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 type of seizures does my child have, and what is the best medication to control them?,How often should we monitor the scoliosis, and at what point would surgery be considered?,Are there any genetic tests that could help us better understand the specific cause in our child?,What therapies (physical, occupational, speech) do you recommend, and how often?,What is the risk of this condition occurring again in future pregnancies?,Are there any clinical trials or research studies we could participate in?,What emergency plan should we have in place for prolonged seizures?
Common questions about Seizures-scoliosis-macrocephaly syndrome
What is Seizures-scoliosis-macrocephaly syndrome?
Seizures-scoliosis-macrocephaly syndrome is an extremely rare genetic condition that affects multiple body systems, most notably the brain, skeleton, and overall growth. The name describes its three hallmark features: seizures (episodes of abnormal electrical activity in the brain), scoliosis (abnormal curvature of the spine), and macrocephaly (an unusually large head size). This condition is classified under disorders of glycoprotein metabolism (ICD-10 code E77.8), meaning it involves problems with how the body processes certain sugar-protein molecules. Children with this syndrome typically
How is Seizures-scoliosis-macrocephaly syndrome inherited?
Seizures-scoliosis-macrocephaly syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Seizures-scoliosis-macrocephaly syndrome typically begin?
Typical onset of Seizures-scoliosis-macrocephaly syndrome is infantile. Age of onset can vary across affected individuals.