Overview
Heart-hand syndrome type 2, also known as Tabatznik syndrome, is an extremely rare genetic condition that affects both the heart and the hands. People with this condition are born with abnormalities in the structure of their heart along with differences in the bones of their hands and sometimes feet. The heart problems typically involve conduction defects, which means the electrical signals that control the heartbeat do not travel through the heart properly. This can lead to irregular heartbeats (arrhythmias) that may cause symptoms like fainting, dizziness, or fatigue. The hand abnormalities usually involve brachydactyly, which means the fingers are shorter than normal due to underdeveloped bones. Some individuals may also have other skeletal differences. Because this condition is so rare, with only a handful of families described in medical literature, our understanding of the full range of symptoms and the best treatments is still limited. Treatment is mainly focused on managing symptoms. Heart rhythm problems may require medications, pacemakers, or other cardiac devices. Hand differences may be monitored or addressed with occupational therapy or, in some cases, surgery. Regular follow-up with a cardiologist is essential because heart rhythm disturbances can sometimes be serious or life-threatening. Genetic counseling is recommended for affected families to understand the risk of passing the condition to future generations.
Also known as:
Key symptoms:
Irregular heartbeat or arrhythmiaShort fingers (brachydactyly)Fainting or near-fainting episodesHeart conduction problemsDizziness or lightheadednessFatigue or low energyAbnormal bone development in the handsPalpitations or feeling the heart racingShort stature of fingers or toesPossible sudden cardiac events
Clinical phenotype terms (25)— hover any for plain English
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Heart-hand syndrome type 2.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Heart-hand syndrome type 2 at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Heart-hand syndrome type 2.
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 Heart-hand syndrome type 2.
Community
No community posts yet. Be the first to share your experience with Heart-hand syndrome type 2.
Start the conversation →Latest news about Heart-hand syndrome type 2
No recent news articles for Heart-hand syndrome type 2.
Follow this condition to be notified when news becomes available.
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.How severe is the heart conduction problem, and does my child need a pacemaker?,What activities or sports are safe, and are there any restrictions?,How often should heart rhythm monitoring be done?,Is genetic testing available to confirm the diagnosis and help with family planning?,What warning signs should I watch for that would require emergency care?,Will the hand differences affect my child's ability to do everyday tasks?,Are there other family members who should be screened for this condition?
Common questions about Heart-hand syndrome type 2
What is Heart-hand syndrome type 2?
Heart-hand syndrome type 2, also known as Tabatznik syndrome, is an extremely rare genetic condition that affects both the heart and the hands. People with this condition are born with abnormalities in the structure of their heart along with differences in the bones of their hands and sometimes feet. The heart problems typically involve conduction defects, which means the electrical signals that control the heartbeat do not travel through the heart properly. This can lead to irregular heartbeats (arrhythmias) that may cause symptoms like fainting, dizziness, or fatigue. The hand abnormalities
How is Heart-hand syndrome type 2 inherited?
Heart-hand syndrome type 2 follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Heart-hand syndrome type 2 typically begin?
Typical onset of Heart-hand syndrome type 2 is neonatal. Age of onset can vary across affected individuals.