Living with Cataract-nephropathy-encephalopathy syndrome
A rare condition from the newborn period involving cataracts, kidney problems, seizures, and short stature.
Understanding Cataract-nephropathy-encephalopathy syndrome
GARD notes there have been no further descriptions in the medical literature since 1963. It begins in the newborn period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Cataract
- Kidney tube problems (renal tubular dysfunction)
- Seizures
- Intellectual disability
- Eye shaking (nystagmus)
- Short stature
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
GARD says changes in genes cause this condition. It is inherited in an autosomal recessive way, so a child inherits a changed copy of a gene from each parent.
Also known as: congenital cataract, nephropathy, encephalopathy syndrome; crome syndrome
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 Cataract-nephropathy-encephalopathy syndrome.
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