Living with Hydrocephalus-blue sclerae-nephropathy syndrome
A rare genetic condition with fluid buildup in the brain, kidney disease, thin skin, and bluish whites of the eyes.
Understanding Hydrocephalus-blue sclerae-nephropathy syndrome
It involves nephrotic syndrome, a kidney problem, with scarring in parts of the kidney. It occurs with hydrocephalus (extra fluid in the brain), thin skin, and blue sclerae (bluish whites of the eyes). It has not been described in the medical literature since 1978.
Signs & symptoms
GARD doesn't list specific symptoms for this condition. Its summary describes:
- Kidney problem (nephrotic syndrome)
- Fluid buildup in the brain (hydrocephalus)
- Thin skin
- Blue-tinted whites of the eyes (blue sclerae)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include eye disease specialists, genetic specialists and kidney specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Eye disease specialists (ophthalmologists); Genetic specialists (geneticists); Kidney specialists (nephrologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with National Kidney Foundation and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in genes (also called variants) cause this condition. GARD doesn't list a specific gene or inheritance pattern.
Also known as: daentl towsend siegel syndrome; daentl-townsend-siegel syndrome; familial nephrosis, hydrocephalus, thin skin, blue sclerae syndrome; hydrocephalus blue sclera nephropathy
Patient organizations
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Hydrocephalus-blue sclerae-nephropathy syndrome.
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