Overview
Nephrosis-deafness-urinary tract-digital malformations syndrome is a very rare condition that affects several parts of the body at the same time. It is sometimes referred to by its Orphanet code ORPHA:2669. The syndrome combines problems with the kidneys (nephrosis), hearing loss (deafness), abnormalities of the urinary tract, and unusual features of the fingers or toes (digital malformations). Because it affects multiple organ systems, it is considered a multi-system syndrome. The kidney problems in this condition involve nephrotic syndrome, which means the kidneys leak too much protein into the urine. This can cause swelling, especially in the legs and around the eyes, and can lead to serious kidney damage over time. The hearing loss is typically present from birth or early childhood and may be permanent. Urinary tract abnormalities can increase the risk of infections and may affect how well the kidneys drain urine. The finger or toe differences can range from extra digits to fused or shortened fingers. Because this syndrome is extremely rare, treatment is focused on managing each symptom separately. Kidney disease may be treated with medications to reduce protein loss and protect kidney function. Hearing loss may be helped with hearing aids or other devices. Urinary tract problems may require monitoring or surgery. A team of specialists is usually needed to provide the best care.
Also known as:
Key symptoms:
Protein leaking into the urine (nephrotic syndrome)Swelling of the legs, feet, or around the eyes due to fluid buildupHearing loss present from birth or early childhoodAbnormalities of the urinary tract such as blockages or structural differencesExtra, fused, or unusually shaped fingers or toesFrequent urinary tract infectionsReduced kidney function over timeLow levels of protein in the bloodFatigue and low energy related to kidney problems
Clinical phenotype terms (9)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for Nephrosis-deafness-urinary tract-digital malformations syndrome.
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Specialists
View all specialists →No specialists are currently listed for Nephrosis-deafness-urinary tract-digital malformations 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 Nephrosis-deafness-urinary tract-digital malformations 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
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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.What genetic tests should we do to find the cause of this syndrome in our child?,How serious is the kidney disease right now, and what is the risk of kidney failure in the future?,What medications are recommended to protect the kidneys, and what are the side effects?,What type of hearing loss does my child have, and will hearing aids or a cochlear implant help?,Do the urinary tract abnormalities need surgery, or can they be monitored?,What specialists should be part of our care team, and how often should we see each one?,Are there any research studies or registries for this condition that we could join?
Common questions about Nephrosis-deafness-urinary tract-digital malformations syndrome
What is Nephrosis-deafness-urinary tract-digital malformations syndrome?
Nephrosis-deafness-urinary tract-digital malformations syndrome is a very rare condition that affects several parts of the body at the same time. It is sometimes referred to by its Orphanet code ORPHA:2669. The syndrome combines problems with the kidneys (nephrosis), hearing loss (deafness), abnormalities of the urinary tract, and unusual features of the fingers or toes (digital malformations). Because it affects multiple organ systems, it is considered a multi-system syndrome. The kidney problems in this condition involve nephrotic syndrome, which means the kidneys leak too much protein into
How is Nephrosis-deafness-urinary tract-digital malformations syndrome inherited?
Nephrosis-deafness-urinary tract-digital malformations syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Nephrosis-deafness-urinary tract-digital malformations syndrome typically begin?
Typical onset of Nephrosis-deafness-urinary tract-digital malformations syndrome is infantile. Age of onset can vary across affected individuals.