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Hydrocephalus-blue sclerae-nephropathy syndrome

Disease definition

Hydrocephalus-blue sclera-nephropathy syndrome is a rare, genetic, renal or urinary tract malformation syndrome characterized by nephrotic syndrome with focal segmental sclerosis associated with hydrocephalus, thin skin and blue sclerae. There have been no further descriptions in the literature since 1978.

ORPHA:2186

  • Synonym(s):
    • Daentl-Townsend-Siegel syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Unknown 
  • Age of onset: No data available
  • ICD-10: Q87.8
  • OMIM: -
  • UMLS: C2931014
  • MeSH: -
  • GARD: 236
  • MedDRA: -

Additional information

Further information on this disease

Specialised Social Services

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