Overview
Heart-hand syndrome type 3, also known as Spanish type heart-hand syndrome, is an extremely rare genetic condition that affects both the heart and the hands or upper limbs. This syndrome belongs to a group of disorders called heart-hand syndromes, where problems with the heart develop alongside abnormalities in the bones or structure of the hands and arms. In type 3 specifically, patients may have congenital heart defects (heart problems present at birth) along with skeletal abnormalities of the upper limbs, which can include missing or underdeveloped bones in the hands or fingers. Because this condition is so rare, only a very small number of families have been described in the medical literature. The heart problems can range from mild to severe and may include structural defects such as septal defects (holes between heart chambers) or other congenital malformations. The limb abnormalities can vary widely, from subtle changes in the fingers to more noticeable differences in hand or arm structure. Treatment is based on managing the specific symptoms each person has. Heart defects may require surgical repair or ongoing monitoring by a cardiologist. Limb differences may benefit from orthopedic care, occupational therapy, or in some cases reconstructive surgery. Because the condition is so rare, there is no specific cure, and care is tailored to each individual's needs. Early diagnosis and a coordinated team of specialists can help improve quality of life.
Also known as:
Key symptoms:
Congenital heart defects (heart problems present from birth)Abnormally shaped or missing fingersUnderdeveloped bones in the handsUpper limb abnormalitiesHeart murmurShortness of breath in infancyDifficulty feeding as a newbornPoor growth in early childhoodAbnormal shape of the forearm bonesFatigue or low energy
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 3.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Heart-hand syndrome type 3 at this time.
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Specialists
View all specialists →No specialists are currently listed for Heart-hand syndrome type 3.
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 3.
Community
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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.How severe is my child's heart defect, and will surgery be needed?,What kind of monitoring will be needed for the heart over time?,Are there any activity restrictions my child should follow?,Would genetic testing help us understand the cause and the risk for future children?,What therapies are available to help with hand function?,Should we see any additional specialists?,Are there any clinical trials or research studies we could participate in?
Common questions about Heart-hand syndrome type 3
What is Heart-hand syndrome type 3?
Heart-hand syndrome type 3, also known as Spanish type heart-hand syndrome, is an extremely rare genetic condition that affects both the heart and the hands or upper limbs. This syndrome belongs to a group of disorders called heart-hand syndromes, where problems with the heart develop alongside abnormalities in the bones or structure of the hands and arms. In type 3 specifically, patients may have congenital heart defects (heart problems present at birth) along with skeletal abnormalities of the upper limbs, which can include missing or underdeveloped bones in the hands or fingers. Because th
How is Heart-hand syndrome type 3 inherited?
Heart-hand syndrome type 3 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 3 typically begin?
Typical onset of Heart-hand syndrome type 3 is neonatal. Age of onset can vary across affected individuals.