Bardet Biedl Syndrome 4 C2936864
A genetic ciliopathy causing retinal dystrophy, obesity, polydactyly, and kidney dysfunction. Severity varies among affected individuals. Management requires lifelong monitoring and supportive interventions.
Key facts at a glance
- ICD-10
- Q89.9
- ICD-11
- LA00.0
- Body system
- congenital
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Cone-rod dystrophy
(congenital)Generalized symptoms
(congenital)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Obesity
(congenital)Renal cystic disease
(renal)Renal calyceal diverticula
(renal)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Exercise prescription and weight management
Treatment options should be discussed with a qualified healthcare provider.
Regular ophthalmologic monitoring
Routine eye examinations and visual acuity testing to monitor retinitis pigmentosa progression and provide timely interventions such as low vision aids.
Polydactyly correction surgery
Surgical removal of extra digits performed in early childhood to improve hand function and cosmetic appearance.
Additional treatment options
Obesity management program
Comprehensive weight management including calorie-controlled diet and regular exercise to prevent secondary complications associated with obesity.
lifestyleRenal-friendly diet modification
Dietary adjustments to support kidney function when structural abnormalities are present, including protein and sodium restriction as indicated.
dietaryDevelopmental and behavioral support
Early intervention services including occupational therapy and psychological support to address learning difficulties and social challenges.
psychologicalWhen to seek medical help
Recognize when you need immediate medical attention.
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Frequently asked questions
Common questions about this topic.
What is Bardet Biedl Syndrome 4 C2936864?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy