Overview
Arthrogryposis-epileptic seizures-migrational brain disorder syndrome is an extremely rare condition that has been described in medical literature under this name but is now considered an obsolete or outdated diagnostic term in the Orphanet classification system. This means that the condition has likely been reclassified, merged with another diagnosis, or better understood through modern genetic testing. The original description involved a combination of arthrogryposis (joint contractures present at birth that limit movement), epileptic seizures, and abnormalities in how the brain develops during pregnancy (called neuronal migration disorders). Babies born with this condition typically had stiff, immobile joints in multiple parts of the body, experienced seizures early in life, and had brain imaging showing that nerve cells did not move to their correct positions during fetal development. This combination of features pointed to a severe neurodevelopmental condition affecting both the brain and the musculoskeletal system. Because this term is now obsolete, patients and families who were previously given this diagnosis should work with a clinical geneticist to determine whether a more current and specific diagnosis applies to their situation. Modern genetic testing, including whole exome or whole genome sequencing, may help identify the precise underlying genetic cause and connect families with the most up-to-date information and management strategies.
Key symptoms:
Joint stiffness and contractures present at birth (arthrogryposis)Seizures starting in infancySevere intellectual disabilityAbnormal brain development visible on imagingPoor muscle tone or unusual muscle stiffnessDifficulty feedingDelayed or absent developmental milestonesLimited movement of arms and legsSmall head size (microcephaly)Difficulty swallowingBreathing difficultiesAbnormal eye movements
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 OBSOLETE: Arthrogryposis-epileptic seizures-migrational brain disorder syndrome.
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Specialists
View all specialists →No specialists are currently listed for OBSOLETE: Arthrogryposis-epileptic seizures-migrational brain disorder 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 OBSOLETE: Arthrogryposis-epileptic seizures-migrational brain disorder 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.Is there a more specific or updated genetic diagnosis for my child's condition?,Would whole exome or whole genome sequencing help identify the exact cause?,What seizure medications are most appropriate, and what are their side effects?,What therapies can help improve or maintain joint mobility?,Are there any clinical trials or emerging treatments that might be relevant?,What is the expected course of this condition, and how can we plan for the future?,What emergency protocols should we have in place for seizures or breathing problems?
Common questions about OBSOLETE: Arthrogryposis-epileptic seizures-migrational brain disorder syndrome
What is OBSOLETE: Arthrogryposis-epileptic seizures-migrational brain disorder syndrome?
Arthrogryposis-epileptic seizures-migrational brain disorder syndrome is an extremely rare condition that has been described in medical literature under this name but is now considered an obsolete or outdated diagnostic term in the Orphanet classification system. This means that the condition has likely been reclassified, merged with another diagnosis, or better understood through modern genetic testing. The original description involved a combination of arthrogryposis (joint contractures present at birth that limit movement), epileptic seizures, and abnormalities in how the brain develops dur
How is OBSOLETE: Arthrogryposis-epileptic seizures-migrational brain disorder syndrome inherited?
OBSOLETE: Arthrogryposis-epileptic seizures-migrational brain disorder syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does OBSOLETE: Arthrogryposis-epileptic seizures-migrational brain disorder syndrome typically begin?
Typical onset of OBSOLETE: Arthrogryposis-epileptic seizures-migrational brain disorder syndrome is neonatal. Age of onset can vary across affected individuals.