Overview
Hydrocephalus-blue sclerae-nephropathy syndrome is a very rare condition that affects multiple parts of the body at the same time. It is sometimes referred to by its Orphanet code ORPHA:2186. The three main features that define this syndrome are: hydrocephalus (a buildup of fluid in and around the brain), blue sclerae (a bluish tint to the whites of the eyes), and nephropathy (kidney disease or damage). These three problems can occur together and may appear from birth or early infancy. Hydrocephalus happens when cerebrospinal fluid — the liquid that cushions the brain — cannot drain properly, causing pressure to build up inside the skull. This can lead to an enlarged head in babies, headaches, vomiting, and problems with brain development. The blue color of the whites of the eyes happens because the outer layer of the eye is thinner than normal, allowing the underlying tissue to show through. Kidney problems can range from mild to more serious and may affect how well the body filters waste from the blood. Because this syndrome is extremely rare, treatment is focused on managing each symptom individually. There is no single cure. Doctors work as a team to address the brain, eye, and kidney problems separately. Early diagnosis and close monitoring are very important to give patients the best possible quality of life.
Also known as:
Key symptoms:
Fluid buildup in the brain (hydrocephalus)Bluish tint to the whites of the eyes (blue sclerae)Kidney disease or reduced kidney function (nephropathy)Enlarged head size in infantsIncreased pressure inside the skullHeadaches or irritability in young childrenVomiting related to increased brain pressureDevelopmental delaysPossible vision problemsProtein or blood in the urine due to kidney involvement
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 Hydrocephalus-blue sclerae-nephropathy syndrome.
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Specialists
View all specialists →No specialists are currently listed for Hydrocephalus-blue sclerae-nephropathy 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 Hydrocephalus-blue sclerae-nephropathy 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 genetic tests should we do to find the cause of this syndrome in our child?,How severe is the hydrocephalus, and does my child need a shunt right away?,How often should we check kidney function, and what signs of worsening should we watch for at home?,What therapies — such as speech, physical, or occupational therapy — does my child need, and how soon should we start?,Are there any dietary changes needed because of the kidney disease?,What are the warning signs that the brain shunt is not working properly?,Are there any research studies or registries for this condition that our family could join?
Common questions about Hydrocephalus-blue sclerae-nephropathy syndrome
What is Hydrocephalus-blue sclerae-nephropathy syndrome?
Hydrocephalus-blue sclerae-nephropathy syndrome is a very rare condition that affects multiple parts of the body at the same time. It is sometimes referred to by its Orphanet code ORPHA:2186. The three main features that define this syndrome are: hydrocephalus (a buildup of fluid in and around the brain), blue sclerae (a bluish tint to the whites of the eyes), and nephropathy (kidney disease or damage). These three problems can occur together and may appear from birth or early infancy. Hydrocephalus happens when cerebrospinal fluid — the liquid that cushions the brain — cannot drain properly,
How is Hydrocephalus-blue sclerae-nephropathy syndrome inherited?
Hydrocephalus-blue sclerae-nephropathy syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Hydrocephalus-blue sclerae-nephropathy syndrome typically begin?
Typical onset of Hydrocephalus-blue sclerae-nephropathy syndrome is neonatal. Age of onset can vary across affected individuals.