Overview
Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome is an extremely rare genetic condition that affects brain development and function. The name describes its main features: severe intellectual disability (significant difficulty with thinking, learning, and reasoning), agenesis of the corpus callosum (the band of nerve fibers connecting the two halves of the brain is missing or underdeveloped), distinctive facial features (facial dysmorphism), and cerebellar ataxia (problems with balance and coordination caused by abnormal development of the cerebellum, the part of the brain that controls movement). Children with this condition typically show signs from birth or early infancy, including significant developmental delays, difficulty reaching milestones like sitting, walking, and talking, and problems with coordination. The facial features may include widely spaced eyes, a broad nasal bridge, and other subtle differences. Because this syndrome is so rare, there is currently no cure or disease-specific treatment. Management focuses on supportive care, including physical therapy, occupational therapy, speech therapy, and special education services to help affected individuals reach their fullest potential. Seizures may also occur and require medical treatment. A team of specialists is usually needed to address the various aspects of this complex condition.
Key symptoms:
Severe intellectual disabilityMissing or underdeveloped connection between the two brain halves (corpus callosum agenesis)Problems with balance and coordination (ataxia)Unusual facial featuresDelayed motor milestones such as sitting and walkingDelayed or absent speechLow muscle tone (floppiness) in infancySeizures or epilepsyDifficulty with fine motor skillsFeeding difficulties in infancyWidely spaced eyesBroad nasal bridgeSmall head size (microcephaly)Behavioral difficulties
Clinical phenotype terms (23)— 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 Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome.
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Specialists
View all specialists →No specialists are currently listed for Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia 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 Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia 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 specific genetic testing has been done, and are there additional tests that could help identify the exact cause?,What therapies are most important to start right away, and how often should they occur?,What should I do if my child has a seizure, and when should I call emergency services?,Are there any clinical trials or research studies that my child might be eligible for?,What feeding strategies or supports would you recommend?,How can we best support communication development, and should we consider alternative communication devices?,What resources are available for our family, including respite care and support groups?
Common questions about Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome
What is Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome?
Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome is an extremely rare genetic condition that affects brain development and function. The name describes its main features: severe intellectual disability (significant difficulty with thinking, learning, and reasoning), agenesis of the corpus callosum (the band of nerve fibers connecting the two halves of the brain is missing or underdeveloped), distinctive facial features (facial dysmorphism), and cerebellar ataxia (problems with balance and coordination caused by abnormal development of the ce
How is Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome inherited?
Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome typically begin?
Typical onset of Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome is neonatal. Age of onset can vary across affected individuals.