Overview
Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome is an extremely rare genetic condition that affects multiple body systems at the same time. The three main features of this disease are nephrotic syndrome (a kidney problem where the body loses too much protein through the urine, leading to swelling and other complications), epidermolysis bullosa (a skin condition where the skin is very fragile and blisters easily with minor friction or trauma), and sensorineural hearing loss (a type of deafness caused by damage to the inner ear or the nerve pathways from the ear to the brain). This combination of symptoms typically appears early in life, often during infancy or early childhood. The kidney involvement can be serious, as nephrotic syndrome may lead to significant swelling (edema), increased risk of infections, blood clots, and eventually kidney failure if not managed carefully. The skin fragility means that everyday activities can cause painful blisters and wounds that are slow to heal and prone to infection. Hearing loss can range from mild to severe and may affect speech and language development in young children. Treatment is mainly supportive and focuses on managing each symptom individually. There is currently no cure for this syndrome. Kidney problems may be treated with medications to reduce protein loss and control swelling, skin care protocols help manage blistering, and hearing aids or cochlear implants may be considered for hearing loss. Because this condition is so rare, management often requires a coordinated team of specialists.
Also known as:
Key symptoms:
Protein loss in the urine (nephrotic syndrome)Swelling of the body, especially around the eyes, legs, and feetFragile skin that blisters easilyPainful skin wounds and soresHearing loss present from birth or early childhoodDelayed speech and language developmentFrequent skin infectionsSlow wound healingLow levels of protein in the bloodHigh cholesterol levelsFatigue and low energyPoor weight gain or failure to thriveIncreased risk of infections
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 Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome.
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Specialists
View all specialists →No specialists are currently listed for Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness 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 Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness 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 is my child's kidney disease, and what is the expected course?,What medications will be used, and what are the possible side effects?,How should we care for the skin at home to prevent blisters and infections?,What type of hearing loss does my child have, and what are the best options for hearing support?,Should we pursue genetic testing, and what would the results mean for our family?,Are there any clinical trials or research studies we should know about?,How often will my child need follow-up appointments with each specialist?
Common questions about Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome
What is Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome?
Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome is an extremely rare genetic condition that affects multiple body systems at the same time. The three main features of this disease are nephrotic syndrome (a kidney problem where the body loses too much protein through the urine, leading to swelling and other complications), epidermolysis bullosa (a skin condition where the skin is very fragile and blisters easily with minor friction or trauma), and sensorineural hearing loss (a type of deafness caused by damage to the inner ear or the nerve pathways from the ear to the b
How is Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome inherited?
Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome typically begin?
Typical onset of Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome is infantile. Age of onset can vary across affected individuals.