Living with Radio-renal syndrome
A rare syndrome with differences in the arm and hand bones and the kidneys, present from birth.
Understanding Radio-renal syndrome
People may have missing or underdeveloped fingers, radius, or ulna bones, short stature, mild ear differences, and a missing kidney or a kidney in an unusual place. GARD says it hasn't been described in the literature since 1983.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Missing or underdeveloped fingers and forearm bones
- Missing or underdeveloped kidney
- Kidney cysts or abnormal kidney development
- Small lower jaw
- Breathing difficulty
- Short stature
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, genetic specialists and kidney 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); Kidney specialists (nephrologists)
- 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 National Kidney Foundation and other patient organizations
- 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
GARD says gene changes cause this condition. It is autosomal dominant, meaning one changed copy of a gene from a parent is enough. It doesn't name a gene yet.
Patient organizations
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Radio-renal syndrome.
Explore research for Radio-renal syndrome
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- Eligibility is confirmed by the study team
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