Overview
HIDEA syndrome is an extremely rare genetic condition whose name stands for Hypotonia, Intellectual Disability, and EEG Abnormalities. This syndrome affects multiple body systems, primarily the nervous system. Children born with HIDEA syndrome typically show low muscle tone (hypotonia) from birth or early infancy, which can make feeding, movement, and reaching developmental milestones more difficult. Intellectual disability ranges from mild to severe and affects learning, communication, and daily functioning. Abnormal brain wave patterns seen on EEG (electroencephalogram) testing are a hallmark feature, and some individuals may develop seizures. Additional features can include distinctive facial characteristics, delayed speech and motor development, and behavioral challenges. Because HIDEA syndrome is so rare, the treatment landscape is currently limited to supportive and symptomatic care. There is no cure or disease-specific therapy available at this time. Management focuses on physical therapy to address low muscle tone, speech therapy for communication difficulties, occupational therapy for daily living skills, and anti-seizure medications if epilepsy develops. Early intervention services and individualized educational programs are important to help children reach their full potential. Ongoing research into the genetic basis of this condition may eventually lead to more targeted treatments.
Key symptoms:
Low muscle tone (floppiness)Intellectual disabilityAbnormal brain wave patterns on EEGSeizures or epilepsyDelayed motor milestones such as sitting and walkingDelayed speech and language developmentFeeding difficulties in infancyDistinctive facial featuresBehavioral challengesPoor coordinationLearning difficulties
Clinical phenotype terms (11)— 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 HIDEA syndrome.
View clinical trials →Clinical Trials
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Specialists
View all specialists →No specialists are currently listed for HIDEA 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 HIDEA 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 is the severity of my child's condition based on the genetic findings?,Does my child need anti-seizure medication, and what are the side effects?,What therapies should we start right away, and how often?,How will this condition affect my child's learning and development over time?,Are there any clinical trials or research studies we should know about?,What should we do if my child has a seizure at home?,Should other family members be tested for carrier status?
Common questions about HIDEA syndrome
What is HIDEA syndrome?
HIDEA syndrome is an extremely rare genetic condition whose name stands for Hypotonia, Intellectual Disability, and EEG Abnormalities. This syndrome affects multiple body systems, primarily the nervous system. Children born with HIDEA syndrome typically show low muscle tone (hypotonia) from birth or early infancy, which can make feeding, movement, and reaching developmental milestones more difficult. Intellectual disability ranges from mild to severe and affects learning, communication, and daily functioning. Abnormal brain wave patterns seen on EEG (electroencephalogram) testing are a hallmar
How is HIDEA syndrome inherited?
HIDEA syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does HIDEA syndrome typically begin?
Typical onset of HIDEA syndrome is neonatal. Age of onset can vary across affected individuals.