Overview
Oculo-skeletal-renal syndrome is a rare condition that affects three main parts of the body: the eyes (oculo), the skeleton (skeletal), and the kidneys (renal). It is also sometimes referred to by the Orphanet code 2716. Because this condition is listed as 'obsolete' in current medical databases, it is likely that it has been reclassified, merged with another diagnosis, or found to overlap significantly with a better-defined syndrome. This means the name may no longer be used in modern medical practice, and patients who were once given this label may now be diagnosed under a different, more specific condition. The hallmark features, as the name suggests, involve problems with vision or eye structure, abnormalities in the bones or joints, and kidney dysfunction or structural kidney problems. These three systems being affected together is what makes this syndrome distinctive. Because the classification is now considered outdated, anyone who has received this diagnosis should speak with a clinical geneticist to confirm whether a more current and precise diagnosis applies to them. Treatment would focus on managing symptoms in each affected body system rather than targeting a single underlying cause.
Key symptoms:
Eye abnormalities or vision problemsBone or joint abnormalitiesKidney problems or reduced kidney functionPossible short staturePossible facial differencesPossible hearing difficultiesProtein or blood in the urine
Variable
Can be inherited in different ways depending on the underlying gene
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for OBSOLETE: Oculo-skeletal-renal syndrome.
View clinical trials →Clinical Trials
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Specialists
View all specialists →No specialists are currently listed for OBSOLETE: Oculo-skeletal-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 OBSOLETE: Oculo-skeletal-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.Is my diagnosis still considered accurate, or should I be reclassified under a more current syndrome?,What genetic testing do you recommend to find the specific cause of my condition?,How often should my kidney function be monitored, and what signs of worsening should I watch for?,Are there specialists in oculo-skeletal-renal conditions or overlapping syndromes who I should see?,What can I do to protect my kidney function long-term?,Are there any clinical trials or research studies I might be eligible for?,What support resources or patient organizations exist for conditions like mine?
Common questions about OBSOLETE: Oculo-skeletal-renal syndrome
What is OBSOLETE: Oculo-skeletal-renal syndrome?
Oculo-skeletal-renal syndrome is a rare condition that affects three main parts of the body: the eyes (oculo), the skeleton (skeletal), and the kidneys (renal). It is also sometimes referred to by the Orphanet code 2716. Because this condition is listed as 'obsolete' in current medical databases, it is likely that it has been reclassified, merged with another diagnosis, or found to overlap significantly with a better-defined syndrome. This means the name may no longer be used in modern medical practice, and patients who were once given this label may now be diagnosed under a different, more sp