Overview
Braddock-Carey syndrome, also known as corpus callosum agenesis with facial anomalies and cerebellar malformation, is an extremely rare genetic condition that affects the development of the brain and face before birth. The hallmark features include agenesis (absence) of the corpus callosum, which is the bundle of nerve fibers connecting the two halves of the brain, along with distinctive facial features and abnormalities of the cerebellum (the part of the brain that controls balance and coordination). Children born with this condition typically show significant developmental delays, intellectual disability, and may have seizures. Facial features can include a broad forehead, widely spaced eyes, a flat nasal bridge, and abnormalities of the ears. Some affected individuals may also have other birth defects involving the heart or other organs. Because this syndrome is so rare, with only a handful of cases described in the medical literature, the treatment landscape is limited to supportive and symptomatic care. There is no cure or disease-specific therapy available. Management focuses on addressing individual symptoms such as seizures, feeding difficulties, and developmental delays through a team of specialists. Physical therapy, occupational therapy, and speech therapy are commonly used to help maximize each child's developmental potential. The prognosis varies depending on the severity of brain malformations and associated complications, but many affected children face significant lifelong challenges.
Also known as:
Key symptoms:
Absence of the corpus callosum (the bridge between brain halves)Underdeveloped cerebellumIntellectual disabilityDevelopmental delaysSeizuresDistinctive facial featuresWidely spaced eyesBroad foreheadFlat nasal bridgeLow-set or abnormally shaped earsFeeding difficulties in infancyLow muscle tonePoor coordination and balanceGrowth delays
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 Braddock-Carey syndrome.
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Specialists
View all specialists →No specialists are currently listed for Braddock-Carey 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 Braddock-Carey 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 is the severity of my child's brain malformations, and what does that mean for their development?,Are there any genetic tests that could help identify the exact cause of this condition in our family?,What therapies should we start right away to support my child's development?,How should we manage seizures, and what are the warning signs of a seizure emergency?,What feeding strategies or supports would you recommend?,What is the chance that future children could also be affected?,Are there any clinical trials or research studies we should know about?
Common questions about Braddock-Carey syndrome
What is Braddock-Carey syndrome?
Braddock-Carey syndrome, also known as corpus callosum agenesis with facial anomalies and cerebellar malformation, is an extremely rare genetic condition that affects the development of the brain and face before birth. The hallmark features include agenesis (absence) of the corpus callosum, which is the bundle of nerve fibers connecting the two halves of the brain, along with distinctive facial features and abnormalities of the cerebellum (the part of the brain that controls balance and coordination). Children born with this condition typically show significant developmental delays, intellectu
How is Braddock-Carey syndrome inherited?
Braddock-Carey syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Braddock-Carey syndrome typically begin?
Typical onset of Braddock-Carey syndrome is neonatal. Age of onset can vary across affected individuals.