Living with Brachydactyly type B
A genetic condition with underdeveloped or missing fingertip bones and nails.
Understanding Brachydactyly type B
Other features may include short middle bones, fused joints, broad thumbs, and webbed fingers. The feet are often less affected than the hands. It can start before birth. There are two types, 1 and 2.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Missing fingernails
- Short end bones of the fingers
- Short hand bones
- Short feet
- Short middle toe 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.
- 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
Type 1 is caused by changes in the ROR2 gene, and type 2 by changes in the NOG gene. Both types are autosomal dominant, so one changed copy of the gene is enough.
Also known as: brachydactyly syndrome type b; type b brachydactyly
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 B.
Explore research for Brachydactyly type B
Explore actively recruiting Brachydactyly type B studies with HealthSpark.
Find actively recruiting studies for Brachydactyly type B 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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