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Nephrosis-deafness-urinary tract-digital malformations syndrome

Disease definition

A rare, genetic, multiple congenital anomalies syndrome characterized by urinary tract anomalies, nephrosis, conductive deafness, and digital malformations, including short and bifid distal phalanges of thumbs and big toes. There have been no further descriptions in the literature since 1962.

ORPHA:2669

Classification level: Disorder
  • Synonym(s):
    • Braun-Bayer syndrome
    • Nephrosis-hearing loss-urinary tract-digital malformations syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Unknown 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.8
  • OMIM: 256200
  • UMLS: C1850552
  • MeSH: C536402
  • GARD: 3943
  • MedDRA: -
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