Overview
Ventriculomegaly-cystic kidney disease is a very rare condition that affects two main parts of the body: the brain and the kidneys. 'Ventriculomegaly' means that the fluid-filled spaces inside the brain (called ventricles) are larger than normal. This can put pressure on brain tissue and affect how the brain develops. 'Cystic kidney disease' means that small fluid-filled sacs (cysts) form in the kidneys, which can interfere with how well the kidneys filter waste from the blood. This condition is typically detected before or shortly after birth, often through prenatal ultrasound or newborn examinations. Babies may show signs of brain development problems, including enlarged head size, developmental delays, and difficulties with movement or learning. The kidney cysts can lead to poor kidney function over time. Because this is an extremely rare disease, treatment is focused on managing symptoms rather than curing the underlying cause. Care usually involves a team of specialists including neurologists, kidney doctors (nephrologists), and geneticists. There is currently no specific approved drug therapy, and management is tailored to each child's individual needs.
Key symptoms:
Enlarged fluid-filled spaces in the brain (ventriculomegaly)Cysts (fluid-filled sacs) in the kidneysEnlarged head size (macrocephaly)Developmental delaysIntellectual disabilityPoor muscle tone (floppiness)SeizuresReduced kidney functionFeeding difficulties in infancyAbnormal brain structure on imaging
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 Ventriculomegaly-cystic kidney disease.
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Specialists
View all specialists →No specialists are currently listed for Ventriculomegaly-cystic kidney disease.
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 Ventriculomegaly-cystic kidney disease.
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 genetic tests should we do to find the cause of this condition in our child?,How severe is the brain and kidney involvement in our child's case, and what does that mean for their future?,Does my child need a brain shunt, and how will we know if one is needed?,What signs should prompt us to go to the emergency room immediately?,What therapies (physical, occupational, speech) should our child start, and how soon?,What is the risk that a future child of ours could have the same condition?,Are there any research studies or registries we can join to help advance understanding of this disease?
Common questions about Ventriculomegaly-cystic kidney disease
What is Ventriculomegaly-cystic kidney disease?
Ventriculomegaly-cystic kidney disease is a very rare condition that affects two main parts of the body: the brain and the kidneys. 'Ventriculomegaly' means that the fluid-filled spaces inside the brain (called ventricles) are larger than normal. This can put pressure on brain tissue and affect how the brain develops. 'Cystic kidney disease' means that small fluid-filled sacs (cysts) form in the kidneys, which can interfere with how well the kidneys filter waste from the blood. This condition is typically detected before or shortly after birth, often through prenatal ultrasound or newborn exa
How is Ventriculomegaly-cystic kidney disease inherited?
Ventriculomegaly-cystic kidney disease follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Ventriculomegaly-cystic kidney disease typically begin?
Typical onset of Ventriculomegaly-cystic kidney disease is neonatal. Age of onset can vary across affected individuals.