Overview
Radio-renal syndrome is an extremely rare genetic condition that affects the development of the bones in the forearm (specifically the radius bone) and the kidneys. The name comes from 'radio' referring to the radius bone and 'renal' referring to the kidneys. This syndrome is sometimes also called radial ray defect with renal anomalies. Children born with this condition typically have abnormalities of the thumb and radius bone on one or both sides, which can range from a slightly small thumb to a completely absent radius. At the same time, the kidneys may be underdeveloped, abnormally shaped, positioned incorrectly, or in some cases absent on one side. Because the kidneys play a vital role in filtering waste from the blood, kidney problems can lead to complications such as high blood pressure, urinary tract infections, or reduced kidney function over time. Some affected individuals may also have other birth differences. Because this condition is so rare, there is no specific cure. Treatment focuses on managing symptoms, which may include surgery to improve hand and arm function, and monitoring kidney health throughout life. A team of specialists including orthopedic surgeons, nephrologists, and geneticists typically work together to provide the best care.
Key symptoms:
Absent or underdeveloped thumbAbsent or shortened radius bone in the forearmCurved or bent forearmKidney abnormalities such as missing or small kidneysKidneys in an unusual positionReduced kidney functionHigh blood pressure related to kidney problemsUrinary tract infectionsDifficulty gripping or using the handsWrist weakness or instability
Clinical phenotype terms (24)— hover any for plain English
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Radio-renal syndrome.
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Specialists
View all specialists →No specialists are currently listed for Radio-renal syndrome.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Radio-renal syndrome.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.How severe are my child's kidney abnormalities, and what is the expected impact on kidney function over time?,How often should kidney function be monitored with blood tests and imaging?,Would surgery help improve my child's hand and arm function, and when is the best time for it?,Should we pursue genetic testing, and what would the results mean for our family?,Are there any dietary restrictions we should follow to protect kidney health?,What signs of kidney problems should prompt us to seek urgent medical care?,Can you refer us to occupational therapy to help with daily tasks?
Common questions about Radio-renal syndrome
What is Radio-renal syndrome?
Radio-renal syndrome is an extremely rare genetic condition that affects the development of the bones in the forearm (specifically the radius bone) and the kidneys. The name comes from 'radio' referring to the radius bone and 'renal' referring to the kidneys. This syndrome is sometimes also called radial ray defect with renal anomalies. Children born with this condition typically have abnormalities of the thumb and radius bone on one or both sides, which can range from a slightly small thumb to a completely absent radius. At the same time, the kidneys may be underdeveloped, abnormally shaped,
How is Radio-renal syndrome inherited?
Radio-renal syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Radio-renal syndrome typically begin?
Typical onset of Radio-renal syndrome is neonatal. Age of onset can vary across affected individuals.