Overview
Autism spectrum disorder-epilepsy-arthrogryposis syndrome is an extremely rare genetic condition that affects multiple body systems, primarily the brain and joints. The syndrome combines three main features: autism spectrum disorder (which affects social communication and behavior), epilepsy (recurrent seizures), and arthrogryposis (joint contractures present at birth that limit movement in two or more joints). Children born with this condition typically show signs from birth or early infancy. The arthrogryposis causes stiff, curved joints that may affect the arms, legs, or both, making movement difficult. Epilepsy can range from mild to severe and may be difficult to control with standard seizure medications. The autism spectrum disorder component affects how the child communicates, interacts socially, and behaves, often including intellectual disability of varying degrees. This syndrome is caused by genetic changes and is classified under the broader category of multiple congenital anomaly syndromes (ICD-10 code Q87.8). Because this condition is so rare, treatment is mainly supportive and tailored to each individual's specific symptoms. A team of specialists is usually needed to manage the different aspects of the disease, including neurologists for seizures, developmental specialists for autism, and orthopedic doctors for joint problems.
Also known as:
Key symptoms:
Joint stiffness and contractures present at birthSeizures or epilepsyAutism spectrum disorderIntellectual disabilityDelayed speech and language developmentDelayed motor milestones like sitting and walkingDifficulty with social interactionRepetitive behaviorsLimited range of motion in arms or legsMuscle weakness or wastingFeeding difficulties in infancyLow muscle tone
Clinical phenotype terms (10)— 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 Autism spectrum disorder-epilepsy-arthrogryposis syndrome.
View clinical trials →Clinical Trials
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Specialists
View all specialists →No specialists are currently listed for Autism spectrum disorder-epilepsy-arthrogryposis 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 Autism spectrum disorder-epilepsy-arthrogryposis syndrome.
Community
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Start the conversation →Latest news about Autism spectrum disorder-epilepsy-arthrogryposis syndrome
2 articlesCaregiver 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 specific genetic change is causing my child's condition, and what does it mean for our family?,What types of seizures does my child have, and what is the best medication to control them?,What therapies are recommended to help with joint mobility and motor development?,What early intervention services should we start for autism and developmental delays?,Are there any clinical trials or research studies we should know about?,What should I do if my child has a prolonged seizure at home?,How often should my child be seen by each specialist on the care team?
Common questions about Autism spectrum disorder-epilepsy-arthrogryposis syndrome
What is Autism spectrum disorder-epilepsy-arthrogryposis syndrome?
Autism spectrum disorder-epilepsy-arthrogryposis syndrome is an extremely rare genetic condition that affects multiple body systems, primarily the brain and joints. The syndrome combines three main features: autism spectrum disorder (which affects social communication and behavior), epilepsy (recurrent seizures), and arthrogryposis (joint contractures present at birth that limit movement in two or more joints). Children born with this condition typically show signs from birth or early infancy. The arthrogryposis causes stiff, curved joints that may affect the arms, legs, or both, making moveme
How is Autism spectrum disorder-epilepsy-arthrogryposis syndrome inherited?
Autism spectrum disorder-epilepsy-arthrogryposis syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Autism spectrum disorder-epilepsy-arthrogryposis syndrome typically begin?
Typical onset of Autism spectrum disorder-epilepsy-arthrogryposis syndrome is neonatal. Age of onset can vary across affected individuals.