Living with Brachydactyly-syndactyly syndrome
A rare genetic condition with short finger and toe bones and joined toes.
Understanding Brachydactyly-syndactyly syndrome
The middle bones of the 2nd and 5th fingers are short, and the middle bones of toes 2 to 5 are missing. The 2nd and 3rd toes are joined. Hand and foot bones are also often different. It can be seen in newborns and infants.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Short middle bone of the index and little fingers
- Joined toes (toe syndactyly)
- Short 5th hand and foot bones
- Bunion (hallux valgus)
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 HOXD13 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 HOXD13 gene cause this condition. It is autosomal dominant, so one changed copy of the gene is enough.
Also known as: bdsd; brachydactyly-syndactyly, zhao type
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-syndactyly syndrome.
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