Hydrocephalus-blue sclerae-nephropathy syndrome
ORPHA:2186· ICD-10 Q87.8
Definition
A rare, genetic, renal 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.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Unknown
- Age of onset
- No data available