Overview
Polysyndactyly-cardiac malformation syndrome is an extremely rare genetic condition that combines two main types of birth defects: abnormalities of the fingers and toes (polysyndactyly) and heart (cardiac) malformations. Polysyndactyly means a person is born with extra fingers or toes (polydactyly) that may also be fused or webbed together (syndactyly). The heart defects can vary in type and severity, ranging from holes between heart chambers to more complex structural problems. This syndrome is present from birth, and the combination of limb and heart findings is what distinguishes it from isolated polydactyly or syndactyly, which are relatively common on their own. Affected individuals may also have other features depending on the specific genetic cause and severity of the condition. Treatment is focused on managing the specific symptoms each person has. Surgery may be needed to separate fused fingers or toes, remove extra digits, or repair heart defects. The outlook depends largely on the severity of the cardiac malformation. Early diagnosis through physical examination and heart imaging is important so that appropriate medical and surgical care can be planned. Because this syndrome is so rare, management is best coordinated by a team of specialists familiar with congenital heart disease and limb anomalies.
Also known as:
Key symptoms:
Extra fingers or toesWebbed or fused fingers or toesHeart defects present at birthAbnormal shape or size of hands or feetBreathing difficulties in newborns due to heart problemsPoor feeding in infancySlow weight gainBluish skin color due to low oxygen from heart defectsHeart murmur detected by a doctor
Clinical phenotype terms (18)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Polysyndactyly-cardiac malformation syndrome.
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Specialists
View all specialists →No specialists are currently listed for Polysyndactyly-cardiac malformation 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 Polysyndactyly-cardiac malformation syndrome.
Community
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Caregiver Resources
NORD Caregiver Resources
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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.What type of heart defect does my child have, and how severe is it?,Will my child need heart surgery, and if so, when is the best time?,When should surgery be done to correct the extra or fused fingers or toes?,What activity restrictions should we follow?,Should we pursue genetic testing, and what can it tell us?,What is the long-term outlook for my child's heart and overall health?,Are there any signs or symptoms I should watch for that would require emergency care?
Common questions about Polysyndactyly-cardiac malformation syndrome
What is Polysyndactyly-cardiac malformation syndrome?
Polysyndactyly-cardiac malformation syndrome is an extremely rare genetic condition that combines two main types of birth defects: abnormalities of the fingers and toes (polysyndactyly) and heart (cardiac) malformations. Polysyndactyly means a person is born with extra fingers or toes (polydactyly) that may also be fused or webbed together (syndactyly). The heart defects can vary in type and severity, ranging from holes between heart chambers to more complex structural problems. This syndrome is present from birth, and the combination of limb and heart findings is what distinguishes it from i
How is Polysyndactyly-cardiac malformation syndrome inherited?
Polysyndactyly-cardiac malformation syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Polysyndactyly-cardiac malformation syndrome typically begin?
Typical onset of Polysyndactyly-cardiac malformation syndrome is neonatal. Age of onset can vary across affected individuals.