Synonyms: EBS with nephropathy | Epidermolysis bullosa simplex with nephropathy | Nephrotic syndrome-hearing loss-epidermolysis bullosa syndrome
A rare genetic renal disease characterized by hereditary nephritis leading to nephrotic syndrome and end-stage renal failure associated with sensorineural hearing loss and pretibial skin blistering followed by atrophy. Other reported manifestations include bilateral lacrimal duct stenosis dystrophic teeth and nails bilateral cervical ribs unilateral kidney distal vaginal agenesis and anemia due to beta-thalassemia minor.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version September 2024
Newly diagnosed with
Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome?
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Advocacy Organizations
DEBRA International
Empower people with EB and their support networks, advocates, healthcare professionals, researchers, and industry with the knowledge and tools they need to better the lives of those with epidermolysis bullosa (EB) worldwide.
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Clinical Trials
For a list of clinical trials in this disease area, please click here.