Living with Chudley-McCullough syndrome
A rare genetic condition with severe hearing loss in both ears and a complex difference in how the brain formed.
Understanding Chudley-McCullough syndrome
Hearing loss is present at birth or progresses rapidly in infancy. The brain differences can include extra fluid (hydrocephalus), a partly missing corpus callosum, and folding differences in the brain's outer layer. Some people have fluid-filled sacs (arachnoid cysts). GARD says major physical differences and delays in development are usually not part of this condition. It lists onset in the newborn period and infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Severe hearing loss from inner ear nerve damage
- Partly missing corpus callosum
- Extra grooves in the brain (polymicrogyria)
- Fluid-filled sacs around the brain (arachnoid cysts)
- Mild intellectual disability
- Delayed motor skills
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, ear, nose, and throat specialists and genetic specialists.
- 3Consider genetic testing
Changes in GPSM2 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Ear, nose, and throat specialists (otolaryngologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with National Organization of Disorders of the Corpus Callosum
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says changes in the GPSM2 gene cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: chudley mccullough syndrome; cmcs; deafness, autosomal recessive 82; deafness, sensorineural, with partial agenesis of the corpus callosum and arachnoid cysts
Patient organizations
- National Organization of Disorders of the Corpus CallosumChudley-McCullough syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Chudley-McCullough syndrome.
Explore research for Chudley-McCullough syndrome
Explore actively recruiting Chudley-McCullough syndrome studies with HealthSpark.
Find actively recruiting studies for Chudley-McCullough syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Chudley-McCullough syndrome studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Chudley-McCullough syndrome
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Chudley-McCullough syndrome experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.