Hydrocephalus-blue sclerae-nephropathy syndrome

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Synonyms: Daentl-Townsend-Siegel syndrome

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version June 2024

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Hydrocephalus-blue sclerae-nephropathy syndrome?

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Clinical Trials

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