Overview
Infantile spasms-broad thumbs syndrome, also known as the syndrome of infantile spasms with broad thumbs, is an extremely rare genetic condition that combines a specific type of seizure disorder with distinctive physical features. The hallmark features include infantile spasms (a type of epileptic seizure that typically begins in the first year of life), unusually broad or wide thumbs, and intellectual disability. Infantile spasms are a serious form of epilepsy in babies, where the child experiences sudden, brief muscle contractions that often occur in clusters, particularly around waking. These spasms can significantly affect brain development if not treated promptly. Children with this syndrome may also have other physical differences, including distinctive facial features and developmental delays. The intellectual disability can range from mild to severe. Because this condition is so rare, with only a handful of cases described in the medical literature, the full range of symptoms and the best treatment approaches are still being understood. Treatment generally focuses on controlling the seizures as early as possible using anti-epileptic medications, along with supportive therapies such as physical therapy, occupational therapy, and special education services to help the child reach their full potential. Early intervention is key to improving outcomes.
Also known as:
Key symptoms:
Infantile spasms (sudden jerking movements in babies)Broad or wide thumbsIntellectual disabilityDevelopmental delaysSeizuresDistinctive facial featuresDelayed speech and languageDelayed motor milestones such as sitting and walkingAbnormal brain wave patterns on EEG (hypsarrhythmia)Low muscle toneLearning difficulties
Clinical phenotype terms (15)— hover any for plain English
Variable
Can be inherited in different ways depending on the underlying gene
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for Infantile spasms-broad thumbs syndrome.
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Specialists
View all specialists →No specialists are currently listed for Infantile spasms-broad thumbs 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 Infantile spasms-broad thumbs syndrome.
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Caregiver Resources
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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 does the EEG show?,What treatment options are available, and what are the potential side effects?,Should my child have genetic testing, and what might the results tell us?,What developmental therapies should we start, and how soon?,What should I do if my child has a prolonged seizure at home?,How often will my child need follow-up EEGs and neurology visits?,Are there any clinical trials or research studies my child might be eligible for?
Common questions about Infantile spasms-broad thumbs syndrome
What is Infantile spasms-broad thumbs syndrome?
Infantile spasms-broad thumbs syndrome, also known as the syndrome of infantile spasms with broad thumbs, is an extremely rare genetic condition that combines a specific type of seizure disorder with distinctive physical features. The hallmark features include infantile spasms (a type of epileptic seizure that typically begins in the first year of life), unusually broad or wide thumbs, and intellectual disability. Infantile spasms are a serious form of epilepsy in babies, where the child experiences sudden, brief muscle contractions that often occur in clusters, particularly around waking. The
At what age does Infantile spasms-broad thumbs syndrome typically begin?
Typical onset of Infantile spasms-broad thumbs syndrome is infantile. Age of onset can vary across affected individuals.