Living with Brachydactyly type A1
A rare genetic condition with short finger bones, short thumbs and big toes, and sometimes short stature.
Understanding Brachydactyly type A1
Middle finger bones are short and sometimes fused with the fingertip bones. The thumbs and big toes are also short. Short stature in adulthood has been reported.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Short middle finger bones
- Short thumb
- Short big toe
- Short foot
- Short stature
- Cone-shaped ends of 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 IHH 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 IHH gene cause this condition. It is autosomal dominant, so one changed copy of the gene is enough.
Also known as: bda1; brachydactyly farabee type; brachydactyly, farabee type; farabee type brachydactyly; farabee-type brachydactyly; short stature with nonspecific skeletal abnormalities 2
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 type A1.
Explore research for Brachydactyly type A1
Explore actively recruiting Brachydactyly type A1 studies with HealthSpark.
Find actively recruiting studies for Brachydactyly type A1 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
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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