Living with Joubert syndrome with renal defect
A rare form of Joubert syndrome that combines the brain features with kidney disease, without retinal disease.
Understanding Joubert syndrome with renal defect
People have the neurological features of Joubert syndrome, such as low muscle tone, balance problems, unusual eye movements, and developmental delay. They also have kidney disease (nephropathy). It is noticed in newborns and infants.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Kidney disease (nephropathy)
- Low muscle tone
- Balance and coordination problems (ataxia)
- Breathing pauses or irregular breathing
- Fast, rhythmic eye movements (nystagmus)
- Developmental delay and intellectual disability
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 brain and nervous system specialists, eye disease specialists, genetic specialists and kidney specialists.
- 3Consider genetic testing
Changes in NPHP1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
National Ataxia Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists); Kidney specialists (nephrologists)
- Expert care
- Expert lists: National Ataxia Foundation
- 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 Joubert Syndrome & Related Disorders 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 the NPHP1 gene are listed. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: jbts4; joubert syndrome 4; joubert syndrome type 4; js-r; nphp1-related joubert syndrome
Patient organizations
- Joubert Syndrome & Related Disorders FoundationJoubert syndrome with renal defect · United States
- National Ataxia FoundationAtaxia · United States
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Joubert syndrome with renal defect.
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