Overview
White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome is an extremely rare genetic condition that affects brain development. The syndrome is sometimes referred to by its Orphanet designation (ORPHA:3207) and involves three main features: underdevelopment (hypoplasia) of the white matter in the brain, absence (agenesis) of the corpus callosum (the thick band of nerve fibers that connects the two halves of the brain), and intellectual disability. Because the white matter and corpus callosum play critical roles in how different parts of the brain communicate with each other, people with this condition often experience significant delays in learning, speech, and motor skills. Additional features may include seizures, abnormal muscle tone, growth delays, and distinctive facial features. The severity of symptoms can vary from person to person. Because this syndrome is so rare, there is limited published medical literature, and much of what is known comes from a small number of reported cases. There is currently no cure for this condition. Treatment is supportive and focuses on managing individual symptoms. This may include physical therapy, occupational therapy, speech therapy, seizure management with medications, and special education services. A team of specialists typically works together to provide the best possible care and quality of life for affected individuals.
Also known as:
Key symptoms:
Intellectual disabilityDelayed speech and language developmentDelayed motor milestones such as sitting and walkingUnderdeveloped white matter in the brainAbsence of the corpus callosumSeizures or epilepsyAbnormal muscle tone (too stiff or too floppy)Small head size (microcephaly)Growth delaysUnusual facial featuresDifficulty with coordination and balanceLearning difficultiesBehavioral challenges
Clinical phenotype terms (17)— 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 White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome.
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Specialists
View all specialists →No specialists are currently listed for White matter hypoplasia-corpus callosum agenesis-intellectual disability 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 White matter hypoplasia-corpus callosum agenesis-intellectual disability 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.What specific brain abnormalities were found on my child's MRI, and what do they mean?,Is genetic testing recommended, and what type of testing would be most helpful?,What therapies should we start right away to support my child's development?,Are there seizure risks, and what should I do if a seizure occurs?,What is the expected developmental outlook for my child?,Are there any clinical trials or research studies we could participate in?,What resources and support services are available for our family?
Common questions about White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome
What is White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome?
White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome is an extremely rare genetic condition that affects brain development. The syndrome is sometimes referred to by its Orphanet designation (ORPHA:3207) and involves three main features: underdevelopment (hypoplasia) of the white matter in the brain, absence (agenesis) of the corpus callosum (the thick band of nerve fibers that connects the two halves of the brain), and intellectual disability. Because the white matter and corpus callosum play critical roles in how different parts of the brain communicate with each
How is White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome inherited?
White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome typically begin?
Typical onset of White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome is neonatal. Age of onset can vary across affected individuals.