Overview
Corpus callosum agenesis-macrocephaly-hypertelorism syndrome is an extremely rare genetic condition that affects brain development and facial features. The corpus callosum is a thick band of nerve fibers that connects the left and right halves of the brain, allowing them to communicate with each other. In this syndrome, the corpus callosum fails to develop (agenesis), which can affect how the brain processes information. Along with this brain difference, affected individuals typically have an unusually large head size (macrocephaly) and widely spaced eyes (hypertelorism). These features are usually noticed at birth or during early infancy. Children with this condition may experience developmental delays, intellectual disability, and difficulties with coordination and motor skills. The degree of these challenges can vary from person to person. Some individuals may also have seizures, speech and language delays, and behavioral differences. Facial features beyond widely spaced eyes may include a broad forehead and other distinctive characteristics. There is currently no cure for this syndrome. Treatment focuses on managing symptoms and supporting development. This may include physical therapy, occupational therapy, speech therapy, and special education services. Seizures, if present, are managed with anti-seizure medications. Early intervention programs can help children reach their full potential. A team of specialists typically works together to provide comprehensive care.
Also known as:
Key symptoms:
Missing or underdeveloped connection between brain halvesUnusually large head sizeWidely spaced eyesDevelopmental delaysIntellectual disabilitySpeech and language delaysSeizuresDifficulty with coordination and motor skillsBroad foreheadDistinctive facial featuresLearning difficultiesBehavioral challengesLow muscle tone
Clinical phenotype terms (10)— hover any for plain English
Variable
Can be inherited in different ways depending on the underlying gene
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Corpus callosum agenesis-macrocephaly-hypertelorism syndrome.
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Specialists
View all specialists →No specialists are currently listed for Corpus callosum agenesis-macrocephaly-hypertelorism 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 Corpus callosum agenesis-macrocephaly-hypertelorism 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 therapies does my child need right now, and how often should they receive them?,Should we pursue genetic testing, and what type of testing do you recommend?,What is the risk of seizures, and what should I do if one occurs?,How will this condition affect my child's learning, and what educational supports should we request?,Are there any clinical trials or research studies that my child might be eligible for?,What specialists should be part of my child's care team, and how often should we see them?,What is the chance that future children could also be affected by this condition?
Common questions about Corpus callosum agenesis-macrocephaly-hypertelorism syndrome
What is Corpus callosum agenesis-macrocephaly-hypertelorism syndrome?
Corpus callosum agenesis-macrocephaly-hypertelorism syndrome is an extremely rare genetic condition that affects brain development and facial features. The corpus callosum is a thick band of nerve fibers that connects the left and right halves of the brain, allowing them to communicate with each other. In this syndrome, the corpus callosum fails to develop (agenesis), which can affect how the brain processes information. Along with this brain difference, affected individuals typically have an unusually large head size (macrocephaly) and widely spaced eyes (hypertelorism). These features are us
At what age does Corpus callosum agenesis-macrocephaly-hypertelorism syndrome typically begin?
Typical onset of Corpus callosum agenesis-macrocephaly-hypertelorism syndrome is neonatal. Age of onset can vary across affected individuals.