Living with Polysyndactyly 4
A rare limb difference present from birth, with a broad or split thumb and sometimes webbing between fingers.
Understanding Polysyndactyly 4
This is the mildest degree of thumb duplication. Webbing between the third and fourth fingers sometimes occurs. It is present at birth or in infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these:
- Extra thumb or duplicated thumb bone
- Broad or split thumb tip
- Webbing of the third and fourth fingers
- Webbed toes
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 bone and joint specialists and genetic specialists.
- 3Consider genetic testing
Changes in GLI3 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
- Bone and joint specialists (orthopedists or orthopedic surgeons); 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 GLI3 gene cause this condition. It is autosomal dominant, meaning one changed copy of the gene is enough.
Also known as: polydactyly, preaxial type 4; polydactyly, preaxial, type iv; polysyndactyly uncomplicated; ppd4; preaxial polydactyly 4; preaxial polydactyly type 4
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 4.
Explore research for Polysyndactyly 4
Explore actively recruiting Polysyndactyly 4 studies with HealthSpark.
Find actively recruiting studies for Polysyndactyly 4 with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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