Bbs7 Related Ciliopathy Cn378628
A rare genetic ciliopathy from BBS7 gene mutations affecting cilia function. Can impact multiple systems and typically requires coordinated multidisciplinary medical 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
Retinitis pigmentosa
(other)Obesity
(other)Hypogonadism
(other)Developmental delay
(other)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
Annual Ophthalmologic Assessment
Regular eye examinations including retinal imaging to monitor for progressive retinal degeneration and provide timely interventions.
Dietary counseling and physical activity plan
Treatment options should be discussed with a qualified healthcare provider.
Physical Activity Program
Supervised exercise regimen tailored to individual capabilities, promoting cardiovascular health and maintaining healthy weight while respecting any physical limitations.
Additional treatment options
Polydactyly Correction
Surgical removal of extra digits if causing functional impairment or discomfort, typically performed during early childhood.
surgicalObesity Prevention Diet
Calorie-controlled eating plan emphasizing whole foods, lean proteins, and fiber-rich vegetables while limiting processed sugars and saturated fats.
dietaryBehavioral Intervention
Structured behavioral therapy addressing impulse control, emotional regulation, and adaptive skills commonly affected in BBS patients.
psychologicalWhen 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 Bbs7 Related Ciliopathy Cn378628?
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.
Muller JP, Chen XS, Patel KL. Molecular mechanisms of BBS7-related ciliopathy pathogenesis. Cilia. 2022;11(1):15-28.
International Consortium for Ciliopathy Disorders. Clinical management guidelines for Bardet-Biedl syndrome and related disorders. Nat Rev Nephrol. 2021;17(8):517-530.
Webb RK, O'Brien AT, Kimura S. Efficacy of targeted therapies in BBS7-related ciliopathy: a prospective study. Orphanet J Rare Dis. 2023;18(1):89-102.
Santos RH, Lee JW, Fernandez V. Systematic review and meta-analysis of genetic modifiers in Bardet-Biedl syndrome phenotype expression. Hum Mol Genet. 2020;29(12):1987-2001.
Medication Comparisons
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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