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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.
Biomarker and diagnostic research for hydrocephalus-blue sclerae-nephropathy syndrome has been reported in the published literature.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for hydrocephalus-blue sclerae-nephropathy syndrome.
200 publications have been identified in PubMed for hydrocephalus-blue sclerae-nephropathy syndrome. Kisho has analyzed 57 by research type. Research spans Review / Meta-Analysis (74%), Basic Science / Preclinical (18%), and Case Report / Case Series (4%).
Research Type | Count | % of Total |
|---|---|---|
Research summaries | 42 | 74% |
Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 5:32 PM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Laboratory research |
10 |
18% |
Patient case studies | 2 | 4% |
Disease patterns and progression | 2 | 4% |
Testing and diagnosis research | 1 | 2% |
Anderson EN (2026). [PMID: 41468891](https://pubmed.ncbi.nlm.nih.gov/41468891/). *Am J Hum Genet*. [Basic Science / Preclinical]
Karuntu JS (2025). [PMID: 39733931](https://pubmed.ncbi.nlm.nih.gov/39733931/). *Prog Retin Eye Res*. [Review / Meta-Analysis]
Kaul A (2025). [PMID: 40915300](https://pubmed.ncbi.nlm.nih.gov/40915300/). *Lancet Rheumatol*. [Review / Meta-Analysis]
Pena C (2025). [PMID: 40146047](https://pubmed.ncbi.nlm.nih.gov/40146047/). *Minerva Med*. [Review / Meta-Analysis]
Sakuma H (2025). [PMID: 39143740](https://pubmed.ncbi.nlm.nih.gov/39143740/). *Dev Med Child Neurol*. [Review / Meta-Analysis]
Krusche M (2025). [PMID: 40960635](https://pubmed.ncbi.nlm.nih.gov/40960635/). *Z Rheumatol*. [Review / Meta-Analysis]
Agrawal R (2025). [PMID: 40200630](https://pubmed.ncbi.nlm.nih.gov/40200630/). *J Assoc Physicians India*. [Review / Meta-Analysis]
Hartung KJ (2025). [PMID: 40736853](https://pubmed.ncbi.nlm.nih.gov/40736853/). *Adv Exp Med Biol*. [Review / Meta-Analysis]
Dotan A (2025). [PMID: 39931017](https://pubmed.ncbi.nlm.nih.gov/39931017/). *Harefuah*. [Review / Meta-Analysis]
Li C (2025). [PMID: 40736845](https://pubmed.ncbi.nlm.nih.gov/40736845/). *Adv Exp Med Biol*. [Review / Meta-Analysis]
AI-curated news mentioning hydrocephalus-blue sclerae-nephropathy syndrome
Updated Mar 16, 2026
Rare Disease Day 2026 highlights the ongoing struggles of families facing undiagnosed conditions, including hydrocephalus and Dandy-Walker syndrome. The event emphasizes the need for awareness and support for those dealing with complex health challenges.