Hydrocephalus-blue sclerae-nephropathy syndrome
Hydrocephalus-blue sclerae-nephropathy syndrome
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.
Also known as Daentl-Townsend-Siegel syndrome, familial nephrosis, hydrocephalus, thin skin, blue sclerae syndrome, hydrocephalus blue sclera nephropathy — per MONDO