Overview
Port-wine nevi-mega cisterna magna-hydrocephalus syndrome is an extremely rare condition that combines several features present from birth. The name describes its three main characteristics: port-wine stains (flat, reddish-purple birthmarks on the skin caused by abnormal blood vessels), mega cisterna magna (an enlargement of a fluid-filled space at the back of the brain), and hydrocephalus (a buildup of fluid inside the brain that puts pressure on brain tissue). This syndrome may also be referred to by its Orphanet designation (ORPHA:2703). Because fluid accumulates in the brain, affected individuals may experience increased head size, developmental delays, and neurological problems. The port-wine stains, also called nevus flammeus, can appear on the face or other parts of the body and are typically present at birth. The combination of these skin and brain findings together in one syndrome distinguishes it from other conditions that share some of these features individually, such as Sturge-Weber syndrome. Treatment is mainly supportive and focused on managing symptoms. Hydrocephalus may require surgical intervention, such as placement of a shunt to drain excess fluid from the brain. Port-wine stains can sometimes be treated with laser therapy for cosmetic improvement. Because this syndrome is so rare, there is limited published medical literature, and management is typically guided by the experience of specialists familiar with related conditions. Early diagnosis and a coordinated care team are important to optimize outcomes.
Also known as:
Key symptoms:
Port-wine stain birthmarks on the skinEnlarged head size due to fluid buildupHydrocephalus (excess fluid in the brain)Enlarged cisterna magna (fluid space at back of brain)Developmental delaysPossible seizuresPossible vision problemsPossible learning difficultiesIncreased pressure inside the skullIrritability in infantsPossible poor feeding in infancy
Clinical phenotype terms (10)— hover any for plain English
Sporadic
Usually appears on its own, not inherited from a parent
Neonatal
Begins at or shortly after birth (first 4 weeks)
FDA & Trial Timeline
1 eventHospital do Coracao — PHASE3
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Port-wine nevi-mega cisterna magna-hydrocephalus syndrome.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Port-wine nevi-mega cisterna magna-hydrocephalus syndrome at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Port-wine nevi-mega cisterna magna-hydrocephalus 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 Port-wine nevi-mega cisterna magna-hydrocephalus syndrome.
Community
No community posts yet. Be the first to share your experience with Port-wine nevi-mega cisterna magna-hydrocephalus syndrome.
Start the conversation →Latest news about Port-wine nevi-mega cisterna magna-hydrocephalus syndrome
Disease timeline:
New recruiting trial: Norepinephrine and Vasopressin for Rescue Versus Early Vasopressin for Vasopressor Dependent Sepsis
A new clinical trial is recruiting patients for Port-wine nevi-mega cisterna magna-hydrocephalus syndrome
Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
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.How severe is the hydrocephalus, and will my child need a shunt?,What signs of shunt malfunction should I watch for at home?,Are there any genetic tests that could help explain the cause of this condition?,What developmental milestones should I track, and when should I be concerned?,Is laser treatment recommended for the port-wine stains, and at what age?,How often will my child need brain imaging follow-ups?,Are there any related conditions we should screen for, such as Sturge-Weber syndrome?
Common questions about Port-wine nevi-mega cisterna magna-hydrocephalus syndrome
What is Port-wine nevi-mega cisterna magna-hydrocephalus syndrome?
Port-wine nevi-mega cisterna magna-hydrocephalus syndrome is an extremely rare condition that combines several features present from birth. The name describes its three main characteristics: port-wine stains (flat, reddish-purple birthmarks on the skin caused by abnormal blood vessels), mega cisterna magna (an enlargement of a fluid-filled space at the back of the brain), and hydrocephalus (a buildup of fluid inside the brain that puts pressure on brain tissue). This syndrome may also be referred to by its Orphanet designation (ORPHA:2703). Because fluid accumulates in the brain, affected ind
How is Port-wine nevi-mega cisterna magna-hydrocephalus syndrome inherited?
Port-wine nevi-mega cisterna magna-hydrocephalus syndrome follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Port-wine nevi-mega cisterna magna-hydrocephalus syndrome typically begin?
Typical onset of Port-wine nevi-mega cisterna magna-hydrocephalus syndrome is neonatal. Age of onset can vary across affected individuals.