Living with Polysyndactyly-cardiac malformation syndrome
A very rare condition present from birth with extra and webbed fingers and toes plus complex heart differences.
Understanding Polysyndactyly-cardiac malformation syndrome
Heart differences can include holes between heart chambers and single ventricle. Other features may include distinctive facial features, nail and bone differences, extra spleens, cysts in the liver or kidneys, and genital differences. Features vary from person to person.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Extra fingers or toes (polydactyly)
- Webbed fingers or toes (syndactyly)
- Heart defects, including holes between heart chambers
- Wide-set eyes and a small lower jaw
- Low-set ears
- Extra amniotic fluid during pregnancy
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says changes in genes cause this condition but doesn't name a gene. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: bonneau syndrome; polysyndactyly and cardiac malformation syndrome; polysyndactyly with cardiac malformation
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Polysyndactyly-cardiac malformation syndrome.
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