Overview
Naxos disease is a rare inherited condition that affects the heart, skin, and hair. It is named after the Greek island of Naxos, where it was first identified in a group of families. The disease is also sometimes called Naxos syndrome. It belongs to a group of heart conditions called arrhythmogenic cardiomyopathy, which means the heart muscle does not work properly and can develop dangerous irregular heartbeats. The condition causes three main problems that appear together: a thickening and roughening of the skin on the palms of the hands and soles of the feet (called palmoplantar keratoderma), woolly or tightly curled hair from birth, and a serious heart muscle disease that develops during the teenage years. The heart problem is the most dangerous part of the disease. The heart muscle becomes replaced by fatty and fibrous tissue, especially on the right side, which can lead to heart failure and life-threatening irregular heart rhythms. Treatment focuses on managing the heart condition, since there is no cure. Doctors use medications to control abnormal heart rhythms, and some patients need a device called an implantable cardioverter-defibrillator (ICD) placed in their chest to prevent sudden cardiac death. The skin and hair changes do not cause serious health problems but are important clues for early diagnosis. Regular heart monitoring is essential for anyone with this condition.
Also known as:
Key symptoms:
Thickened, rough skin on the palms of the hands and soles of the feetWoolly or tightly curled hair present from birthIrregular or abnormal heartbeats (arrhythmias)Heart muscle disease affecting mainly the right side of the heartFainting or blackout spellsShortness of breath, especially during exerciseSwelling in the legs or anklesExtreme tiredness or fatiguePalpitations (feeling the heart racing or fluttering)Increased risk of sudden cardiac arrest
Clinical phenotype terms (14)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Juvenile
Begins in the teen years
Treatments
No FDA-approved treatments are currently listed for Naxos disease.
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Specialists
View all specialists →No specialists are currently listed for Naxos 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 Naxos disease.
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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.Do I need an ICD device, and what are the risks and benefits for my specific situation?,Which physical activities are safe for me, and which ones should I completely avoid?,How often should I have heart monitoring tests, and what are we looking for?,Should my brothers, sisters, and parents be tested for this condition?,What warning signs should make me go to the emergency room immediately?,Are there any clinical trials or new treatments I should know about?,How is my heart condition likely to change over time, and what would trigger a need for more aggressive treatment?
Common questions about Naxos disease
What is Naxos disease?
Naxos disease is a rare inherited condition that affects the heart, skin, and hair. It is named after the Greek island of Naxos, where it was first identified in a group of families. The disease is also sometimes called Naxos syndrome. It belongs to a group of heart conditions called arrhythmogenic cardiomyopathy, which means the heart muscle does not work properly and can develop dangerous irregular heartbeats. The condition causes three main problems that appear together: a thickening and roughening of the skin on the palms of the hands and soles of the feet (called palmoplantar keratoderma
How is Naxos disease inherited?
Naxos disease follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Naxos disease typically begin?
Typical onset of Naxos disease is juvenile. Age of onset can vary across affected individuals.