Living with Polydactyly of a biphalangeal thumb
A rare limb difference present from birth in which a thumb or big toe is duplicated, without other health problems.
Understanding Polydactyly of a biphalangeal thumb
It does not come with other syndrome features. It is present at birth. Both hands are often affected, and the right hand is more often involved than the left. A duplicated big toe can occur with or without a thumb difference and is most often on the right foot only.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. It describes this:
- Duplicated thumb bone or bones
- Duplicated big toe bone or bones
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 GLI1 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 GLI1 gene cause this condition. It is autosomal dominant, meaning one changed copy of the gene is enough.
Also known as: extra thumb; fromont anomaly; polydactyly affecting the thumb; polydactyly, preaxial i; polydactyly, preaxial type 1; ppd1
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 Polydactyly of a biphalangeal thumb.
Explore research for Polydactyly of a biphalangeal thumb
Explore actively recruiting Polydactyly of a biphalangeal thumb studies with HealthSpark.
Find actively recruiting studies for Polydactyly of a biphalangeal thumb with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Polydactyly of a biphalangeal thumb studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Polydactyly of a biphalangeal thumb
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Polydactyly of a biphalangeal thumb experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.