Bbs2 Related Ciliopathy Cn378634
A rare genetic ciliopathy from BBS2 gene mutations disrupting cilia function. May affect vision, kidneys, and other systems; managed with specialized care.
Key facts at a glance
- ICD-10
- Q89.9
- ICD-11
- LA00.0
- Body system
- other
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Generalized symptoms
(other)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Vision loss
(sensory)Obesity
(constitutional)Polydactyly
(musculoskeletal)Renal dysfunction
(genitourinary)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
Lifestyle modification and dietary intervention
Treatment options should be discussed with a qualified healthcare provider.
Renal function monitoring
Regular assessment of kidney structure and function including ultrasound imaging and laboratory evaluation to detect structural abnormalities or progressive renal disease.
Obesity management program
Comprehensive weight management through diet modification, behavioral therapy, and family-based interventions to reduce metabolic complications associated with BBS2.
Additional treatment options
Bariatric surgery evaluation
Surgical options such as sleeve gastrectomy or gastric bypass may be considered for severe obesity unresponsive to conventional weight management approaches.
surgicalRetinal degeneration support
Supportive treatments including low-vision aids, UV-protective eyewear, and potential emerging therapies targeting retinal degeneration pathways.
medicationAcupressure for metabolic support
Traditional techniques applied to support digestive function and metabolic regulation as adjunctive therapy to primary interventions.
complementaryWhen 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 Bbs2 Related Ciliopathy Cn378634?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Klein R, Muller P, Schmidt J. Ciliopathies and the BBS2 gene: Clinical manifestations and therapeutic approaches. Orphanet J Rare Dis. 2022.
Novak V, Chen L, Patel A. International consensus recommendations for management of inherited ciliopathies including BBS2-related disorders. Am J Med Genet. 2021.
Williams S, Anderson K, Garcia M. Targeted therapies for BBS2-related ciliopathy: Phase II clinical trial results. J Clin Invest. 2023.
Liu H, Thompson R, Brown S. Molecular mechanisms underlying BBS2 dysfunction in ciliopathy pathogenesis: A systematic review and meta-analysis. Hum Mol Genet. 2020.
Medication Comparisons
Compare medications used to treat Bbs2 Related Ciliopathy Cn378634. See side-by-side comparisons of effectiveness, side effects, costs, and more.
View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy