Living with Humero-radio-ulnar synostosis
An extremely rare genetic condition present at birth in which arm bones fuse, limiting elbow motion.
Understanding Humero-radio-ulnar synostosis
The humerus, radius, and ulna bones fuse on one or both sides, so the elbow cannot move. In most people this limits how well the arm works. The arm may be short and the elbow joint missing on imaging. Hand differences, such as fused or missing fingers, may occur. It may be seen during pregnancy or in newborns.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Fused forearm bones (radioulnar synostosis)
- Stiff, fixed elbow (elbow ankylosis)
- Absent or small thumb
- Arms of unequal size
- Differently shaped hand bones
- Cavernous hemangioma (mass of blood vessels)
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 (also called variants) cause this condition. GARD doesn't list a specific gene or inheritance pattern.
Also known as: humero-radio-ulnar fusion; humeroradioulnar synostosis
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 Humero-radio-ulnar synostosis.
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- Recruiting studies from ClinicalTrials.gov
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- 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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