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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
  • ICD-11: LD2H.Y
  • OMIM: 256200
  • UMLS: C4510366
  • MeSH: C536402
  • GARD: 3943
  • MedDRA: -

  A summary on this disease is available in Deutsch (2019) Español (2019) Français (2019) Italiano (2019) Nederlands (2019)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.