Overview
EVEN-plus syndrome is a very rare genetic condition that affects multiple parts of the body. The name stands for Epidermal nevi, Ventricular anomalies, and Eye abnormalities — plus additional features beyond these core findings. It is sometimes referred to as EVEN-plus or epidermal nevus syndrome with additional systemic involvement. The condition is caused by changes (mutations) in the HRAS gene that happen after conception, meaning the mutation is present in only some cells of the body — a situation called somatic mosaicism. People with EVEN-plus syndrome can have a wide range of symptoms. These include skin growths called epidermal nevi (raised, sometimes warty patches of skin), heart defects, eye problems, and brain or nervous system abnormalities. Because the mutation affects different tissues depending on when it occurred during early development, no two people with this condition look exactly alike. There is currently no cure for EVEN-plus syndrome. Treatment focuses on managing each symptom as it appears. This usually means a team of specialists working together — including dermatologists, cardiologists, neurologists, and ophthalmologists. Early diagnosis and regular monitoring are very important to catch and treat complications before they become serious.
Key symptoms:
Raised, thickened, or warty skin patches (epidermal nevi)Heart defects or structural heart problemsEye abnormalities, such as clouding of the lens (cataracts) or problems with the retinaBrain abnormalities visible on imagingSeizures or epilepsyIntellectual disability or learning difficultiesOvergrowth of certain body parts or tissuesSkeletal abnormalities such as bone deformitiesKidney or urinary tract problemsHearing lossAbnormal blood vessel growth
Sporadic
Usually appears on its own, not inherited from a parent
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for EVEN-plus syndrome.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for EVEN-plus syndrome at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for EVEN-plus 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 EVEN-plus syndrome.
Community
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Start the conversation →Latest news about EVEN-plus syndrome
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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.Which organs are affected in my child's case, and how severe is the involvement?,Should we do genetic testing on skin tissue rather than blood, and what will the results tell us?,What specialists should be part of our care team, and how often should we see each one?,Are there any clinical trials or research studies we should know about?,What signs or symptoms should prompt us to seek emergency care immediately?,How might this condition change as my child grows older?,What educational or developmental support services should we pursue right away?
Common questions about EVEN-plus syndrome
What is EVEN-plus syndrome?
EVEN-plus syndrome is a very rare genetic condition that affects multiple parts of the body. The name stands for Epidermal nevi, Ventricular anomalies, and Eye abnormalities — plus additional features beyond these core findings. It is sometimes referred to as EVEN-plus or epidermal nevus syndrome with additional systemic involvement. The condition is caused by changes (mutations) in the HRAS gene that happen after conception, meaning the mutation is present in only some cells of the body — a situation called somatic mosaicism. People with EVEN-plus syndrome can have a wide range of symptoms.
How is EVEN-plus syndrome inherited?
EVEN-plus syndrome follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does EVEN-plus syndrome typically begin?
Typical onset of EVEN-plus syndrome is neonatal. Age of onset can vary across affected individuals.