Overview
Chudley-McCullough syndrome (CMS) is a very rare genetic condition that affects both the brain and hearing. It was first described by Drs. Chudley and McCullough. People with this syndrome are born with severe to profound sensorineural hearing loss, meaning the inner ear or the nerve that carries sound signals to the brain does not work properly. In addition, brain MRI scans show specific structural abnormalities, most commonly a large fluid-filled space at the back of the brain (enlarged posterior fossa), partial absence of the tissue connecting the two halves of the brain (partial agenesis of the corpus callosum), and gray matter lining the brain ventricles in abnormal locations (gray matter heterotopia). Despite these brain abnormalities, most individuals with Chudley-McCullough syndrome have normal or near-normal intelligence, which is an important and somewhat surprising feature of this condition. Some individuals may experience seizures, but this is not always the case. There is currently no cure for Chudley-McCullough syndrome. Treatment focuses on managing hearing loss, typically through hearing aids or cochlear implants, which can significantly improve communication and quality of life. Seizures, if present, are managed with anti-seizure medications. Early intervention with speech therapy and educational support is important to help children develop language skills.
Key symptoms:
Severe to profound hearing loss present from birthBrain abnormalities visible on MRIPartial absence of the tissue connecting the two brain halves (corpus callosum)Abnormally placed brain tissue (gray matter heterotopia)Enlarged fluid-filled space at the back of the brainSeizures in some individualsHydrocephalus (excess fluid in the brain) in some casesAbnormalities of the inner ear structureGenerally normal intelligence despite brain changesPossible mild learning difficulties in some individuals
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 Chudley-McCullough syndrome.
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Specialists
View all specialists →No specialists are currently listed for Chudley-McCullough 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 Chudley-McCullough syndrome.
Community
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Caregiver Resources
NORD Caregiver Resources
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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.Is my child a good candidate for cochlear implants, and when should they be implanted?,What do the brain MRI findings mean for my child's development and learning?,Does my child need anti-seizure medication, and what are the side effects?,How often should we have follow-up brain MRI scans?,What early intervention services should we start right away?,Should other family members be tested for carrier status?,Are there any clinical trials or new treatments being studied for this condition?
Common questions about Chudley-McCullough syndrome
What is Chudley-McCullough syndrome?
Chudley-McCullough syndrome (CMS) is a very rare genetic condition that affects both the brain and hearing. It was first described by Drs. Chudley and McCullough. People with this syndrome are born with severe to profound sensorineural hearing loss, meaning the inner ear or the nerve that carries sound signals to the brain does not work properly. In addition, brain MRI scans show specific structural abnormalities, most commonly a large fluid-filled space at the back of the brain (enlarged posterior fossa), partial absence of the tissue connecting the two halves of the brain (partial agenesis o
How is Chudley-McCullough syndrome inherited?
Chudley-McCullough syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Chudley-McCullough syndrome typically begin?
Typical onset of Chudley-McCullough syndrome is neonatal. Age of onset can vary across affected individuals.