Overview
This entry, previously known as 'Rare disease with corpus callosum agenesis associated with peripheral neuropathy,' has been marked as obsolete in the Orphanet classification system. This means the condition has been reclassified, merged with another diagnosis, or its classification has been updated based on newer scientific understanding. The original description referred to a rare condition in which a person is born without or with an underdeveloped corpus callosum — the thick band of nerve fibers that connects the left and right halves of the brain — combined with peripheral neuropathy, which is damage to the nerves outside the brain and spinal cord. Symptoms of corpus callosum agenesis can include developmental delays, intellectual disability, seizures, and problems with coordination. Peripheral neuropathy adds symptoms like numbness, tingling, weakness, or pain in the hands and feet. Because this entry is now obsolete, patients and families who were previously given this diagnosis should speak with their clinical geneticist or neurologist to determine the current, updated diagnosis that applies to their condition. The updated classification may fall under a more specific genetic syndrome, such as hereditary motor and sensory neuropathy with agenesis of the corpus callosum (also known as Andermann syndrome or ACCPN), or another related condition. Treatment has generally been supportive and symptom-based, focusing on managing seizures, physical therapy for motor difficulties, and addressing neuropathy symptoms.
Key symptoms:
Absence or underdevelopment of the connection between brain halvesNumbness or tingling in hands and feetMuscle weakness, especially in the legsDelayed motor milestones like sitting and walkingIntellectual disability or learning difficultiesSeizuresPoor coordination and balanceDifficulty with fine motor tasksProgressive difficulty walkingMuscle wastingAbnormal eye movementsScoliosis or spinal curvatureSpeech delays
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 OBSOLETE: Rare disease with corpus callosum agenesis associated with peripheral neuropathy.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for OBSOLETE: Rare disease with corpus callosum agenesis associated with peripheral neuropathy at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for OBSOLETE: Rare disease with corpus callosum agenesis associated with peripheral neuropathy.
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: Rare disease with corpus callosum agenesis associated with peripheral neuropathy.
Community
No community posts yet. Be the first to share your experience with OBSOLETE: Rare disease with corpus callosum agenesis associated with peripheral neuropathy.
Start the conversation →Latest news about OBSOLETE: Rare disease with corpus callosum agenesis associated with peripheral neuropathy
No recent news articles for OBSOLETE: Rare disease with corpus callosum agenesis associated with peripheral neuropathy.
Follow this condition to be notified when news becomes available.
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.Has my diagnosis been updated from this obsolete classification, and what is the current name for my condition?,Which gene is responsible, and should my family members be tested?,What is the expected progression of symptoms over time?,What therapies are available to help maintain mobility and function?,Are there any clinical trials or new treatments being studied for this condition?,What seizure management plan should we follow?,What support services and resources are available for our family?
Common questions about OBSOLETE: Rare disease with corpus callosum agenesis associated with peripheral neuropathy
What is OBSOLETE: Rare disease with corpus callosum agenesis associated with peripheral neuropathy?
This entry, previously known as 'Rare disease with corpus callosum agenesis associated with peripheral neuropathy,' has been marked as obsolete in the Orphanet classification system. This means the condition has been reclassified, merged with another diagnosis, or its classification has been updated based on newer scientific understanding. The original description referred to a rare condition in which a person is born without or with an underdeveloped corpus callosum — the thick band of nerve fibers that connects the left and right halves of the brain — combined with peripheral neuropathy, whi
How is OBSOLETE: Rare disease with corpus callosum agenesis associated with peripheral neuropathy inherited?
OBSOLETE: Rare disease with corpus callosum agenesis associated with peripheral neuropathy follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does OBSOLETE: Rare disease with corpus callosum agenesis associated with peripheral neuropathy typically begin?
Typical onset of OBSOLETE: Rare disease with corpus callosum agenesis associated with peripheral neuropathy is infantile. Age of onset can vary across affected individuals.