Living with Heart defect - tongue hamartoma - polysyndactyly syndrome
A rare genetic syndrome with heart defects, a noncancerous growth on the tongue, and extra or joined fingers and toes.
Understanding Heart defect - tongue hamartoma - polysyndactyly syndrome
It includes congenital heart defects, such as a narrowed aorta, with growths on the tongue (tongue hamartomas), extra little fingers, and joined toes. It is noticed in the newborn period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Heart defects, such as narrowing below the aortic valve
- Patent ductus arteriosus (an open blood vessel in the heart)
- Tongue hamartoma (noncancerous growth)
- Joined fingers (webbing)
- Undescended testes
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.
- 3Consider genetic testing
Changes in WDPCP are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
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
Changes in the WDPCP gene cause this condition. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: congenital heart defects, hamartomas of tongue, and polysyndactyly; heart defect-tongue hamartoma-polysyndactyly syndrome; ostravik-lindemann-solberg syndrome
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 Heart defect - tongue hamartoma - polysyndactyly syndrome.
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