Hydrocephalus-blue sclerae-nephropathy syndrome

Orpha code: 2186OMIM code:

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.

Disease data
Classification

Malformation syndrome

Synonyms
Daentl-Townsend-Siegel syndrome
Zespół Daentla, Townsenda i Siegela
ORPHA code
2186
OMIM code
-
ICD10 code
Q87.8
ICD11 code
-

No additional description.

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