Living with Brachydactyly-elbow wrist dysplasia syndrome
A rare genetic condition (Liebenberg syndrome) affecting how the elbows, wrists, and hands develop.
Understanding Brachydactyly-elbow wrist dysplasia syndrome
Joint contractures (stiff, bent joints) often limit movement. The elbow bones look more like those of the knee, and wrist bones may be fused, so the hand bends toward the thumb. Fingers are usually short. People usually have no other symptoms, and the legs and feet are not affected.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Stiff, limited elbow movement
- Fused wrist bones
- Short fingers or toes (brachydactyly)
- Curved little finger (clinodactyly)
- Elbow dislocation
- Joint stiffness
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: brachydactyly elbow wrist dysplasia; brachydactyly with joint dysplasia; brachydactyly-joint dysplasia syndrome; liebenberg syndrome; synostosis, carpal, with dysplastic elbow joints and 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-elbow wrist dysplasia syndrome.
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