Living with Brachydactyly-preaxial hallux varus syndrome
A very rare genetic limb condition with short thumbs and big toes, and learning differences.
Understanding Brachydactyly-preaxial hallux varus syndrome
The shortening affects certain hand, foot, and fingertip bones, and the affected fingers and toes are bent away from the others. All reported people had intellectual disability. No new reports have appeared since 1994.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Short fingers or toes (brachydactyly)
- Broad or extra thumb
- Shortened hand and foot bones
- Thick eyebrows that meet in the middle
- Wide nasal bridge
- Small lower jaw (micrognathia)
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.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
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 genes cause this condition. It is autosomal dominant, so one changed copy of the gene is enough.
Also known as: christian brachydactyly; dominant preaxial brachydactyly with hallux varus and thumb abduction; preaxial brachydactyly with hallux varus and thumb abduction
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 Brachydactyly-preaxial hallux varus syndrome.
Explore research for Brachydactyly-preaxial hallux varus syndrome
Explore actively recruiting Brachydactyly-preaxial hallux varus syndrome studies with HealthSpark.
Find actively recruiting studies for Brachydactyly-preaxial hallux varus syndrome 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 Brachydactyly-preaxial hallux varus syndrome 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 Brachydactyly-preaxial hallux varus syndrome
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 Brachydactyly-preaxial hallux varus syndrome 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.