NEVADA syndrome

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ORPHA:370059Q84.8
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Overview

NEVADA syndrome is an extremely rare genetic condition. The name NEVADA stands for Neonatal Erosive and Vesicular Dermatosis with Absent or delayed skin barrier recovery. This condition primarily affects the skin and is present from birth. Babies born with NEVADA syndrome have widespread skin blistering, erosions (areas where the top layer of skin is missing), and fragile skin that does not heal properly. The skin barrier, which normally protects the body from infection and water loss, is severely impaired. Because the skin cannot function as a proper barrier, affected newborns are at high risk for infections, fluid loss, and problems regulating body temperature. The condition can be life-threatening in the newborn period due to these complications. NEVADA syndrome falls under the broader category of skin disorders classified under ICD-10 code Q84.8, which covers other specified congenital malformations of the skin. Treatment is mainly supportive and focuses on protecting the skin, preventing infections, managing fluid balance, and providing wound care. There is currently no cure for NEVADA syndrome. Because it is so rare, much of the medical understanding comes from a very small number of reported cases, and research is still ongoing to better understand the underlying genetic cause and develop more targeted treatments.

Also known as:

Key symptoms:

Widespread skin blistering at birthSkin erosions (raw, open areas of skin)Fragile skin that tears easilyDelayed or absent skin healingRedness and inflammation of the skinFluid loss through damaged skinDifficulty regulating body temperatureIncreased risk of skin infectionsNail abnormalitiesFailure to thrive or poor weight gain

Inheritance

Autosomal recessive

Passed on when both parents carry the same gene change; often skips generations

Age of Onset

Neonatal

Begins at or shortly after birth (first 4 weeks)

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for NEVADA syndrome.

View clinical trials →

No actively recruiting trials found for NEVADA syndrome at this time.

New trials open frequently. Follow this disease to get notified.

Search ClinicalTrials.gov ↗Join the NEVADA syndrome community →

No specialists are currently listed for NEVADA syndrome.

View NORD Rare Disease Centers ↗Undiagnosed Disease Network ↗

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to NEVADA syndrome.

Search all travel grants →NORD Financial Assistance ↗

Community

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Latest news about NEVADA 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.What is the specific genetic cause of my child's condition, and is genetic testing available?,What is the expected course of this disease for my child?,What wound care routine do you recommend, and what products should we use?,What signs of infection or complications should we watch for at home?,Are there any clinical trials or research studies we could participate in?,Should other family members be tested for carrier status?,What support services are available for our family?

Common questions about NEVADA syndrome

What is NEVADA syndrome?

NEVADA syndrome is an extremely rare genetic condition. The name NEVADA stands for Neonatal Erosive and Vesicular Dermatosis with Absent or delayed skin barrier recovery. This condition primarily affects the skin and is present from birth. Babies born with NEVADA syndrome have widespread skin blistering, erosions (areas where the top layer of skin is missing), and fragile skin that does not heal properly. The skin barrier, which normally protects the body from infection and water loss, is severely impaired. Because the skin cannot function as a proper barrier, affected newborns are at high ri

How is NEVADA syndrome inherited?

NEVADA syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does NEVADA syndrome typically begin?

Typical onset of NEVADA syndrome is neonatal. Age of onset can vary across affected individuals.