Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome

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Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome

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 2023.

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