OBSOLETE: Cerebrorenodigital syndrome

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ORPHA:1396
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Overview

Cerebrorenodigital syndrome is an extremely rare condition that was historically described as affecting the brain (cerebro), kidneys (reno), and fingers or toes (digital). This syndrome has been classified as 'OBSOLETE' in medical databases, meaning it is no longer recognized as a distinct, separate condition. This may be because the original cases were later reclassified under a different diagnosis, or because advances in genetic testing revealed that the features originally grouped together actually belong to another known syndrome. The condition was originally reported in a very small number of patients who showed a combination of brain abnormalities (which could include intellectual disability or structural brain differences), kidney malformations, and abnormalities of the fingers or toes. Because so few cases were ever described, detailed information about the full range of symptoms, the underlying genetic cause, and the best treatment approaches remains very limited. If you or a family member has been given this diagnosis, it is important to work with a clinical geneticist who can review the original findings and determine whether a more current diagnosis applies. Modern genetic testing tools, such as whole exome or whole genome sequencing, may help identify the precise genetic cause and guide appropriate management.

Key symptoms:

Brain abnormalities or differences in brain structureIntellectual disability or developmental delayKidney malformations or problems with kidney developmentAbnormalities of the fingers or toesExtra fingers or toes (polydactyly) or fused fingers or toesPossible growth problemsPossible seizures

Age of Onset

Neonatal

Begins at or shortly after birth (first 4 weeks)

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for OBSOLETE: Cerebrorenodigital syndrome.

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No actively recruiting trials found for OBSOLETE: Cerebrorenodigital syndrome at this time.

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Search ClinicalTrials.gov ↗Join the OBSOLETE: Cerebrorenodigital syndrome community →

No specialists are currently listed for OBSOLETE: Cerebrorenodigital syndrome.

View NORD Rare Disease Centers ↗Undiagnosed Disease Network ↗

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to OBSOLETE: Cerebrorenodigital syndrome.

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Community

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Latest news about OBSOLETE: Cerebrorenodigital syndrome

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Caregiver Resources

NORD Caregiver Resources

Support, advocacy, and financial assistance for caregivers of rare disease patients.

Mental Health Support

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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 this diagnosis still considered valid, or should we pursue updated genetic testing to find a more current diagnosis?,What type of genetic testing would you recommend for our family?,How severe is the kidney involvement, and what monitoring is needed?,What developmental therapies should we start, and how soon?,Are there any clinical trials or research studies that might be relevant?,What is the chance that future children could be affected?,Can you refer us to a clinical geneticist who specializes in rare multi-system conditions?

Common questions about OBSOLETE: Cerebrorenodigital syndrome

What is OBSOLETE: Cerebrorenodigital syndrome?

Cerebrorenodigital syndrome is an extremely rare condition that was historically described as affecting the brain (cerebro), kidneys (reno), and fingers or toes (digital). This syndrome has been classified as 'OBSOLETE' in medical databases, meaning it is no longer recognized as a distinct, separate condition. This may be because the original cases were later reclassified under a different diagnosis, or because advances in genetic testing revealed that the features originally grouped together actually belong to another known syndrome. The condition was originally reported in a very small numb

At what age does OBSOLETE: Cerebrorenodigital syndrome typically begin?

Typical onset of OBSOLETE: Cerebrorenodigital syndrome is neonatal. Age of onset can vary across affected individuals.