Bardet Biedl Syndrome 1 7 Digenic C4016435
A rare genetic ciliopathy causing retinal degeneration, obesity, extra digits, kidney problems, and learning difficulties. Management involves multidisciplinary specialists addressing each symptom. Outlook varies with organ involvement severity.
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.
Warning signs - seek immediate care
Rod-cone dystrophy (retinal degeneration)
Generalized symptoms
(congenital)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Obesity
(endocrine)Postaxial polydactyly
(musculoskeletal)Intellectual disability
(neurological)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
Enhanced surveillance protocol
More intensive monitoring recommended due to potentially more severe phenotype in digenic inheritance. Includes regular renal ultrasound, ophthalmologic exams, and metabolic assessments.
Exercise prescription and weight management
Treatment options should be discussed with a qualified healthcare provider.
Systemic symptom management
Targeted medications for specific manifestations such as weight management agents, blood pressure control for renal involvement, and endocrine support as needed.
Additional treatment options
Genetic testing confirmation
Confirmatory genetic testing and family variant studies to clarify inheritance pattern and provide accurate recurrence risk counseling for extended family.
complementaryFamily-centered support program
Comprehensive psychosocial support addressing the increased burden of digenic BBS, including counseling, support groups, and connection with advocacy organizations.
psychologicalEnvironmental adaptations
Home and school modifications to accommodate potential visual impairment and motor challenges, including assistive devices, modified materials, and accessibility adjustments.
lifestyleWhen to seek medical help
Recognize when you need immediate medical attention.
Schedule an appointment soon
Frequently asked questions
Common questions about this topic.
What is Bardet Biedl Syndrome 1 7 Digenic C4016435?
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