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Bbs1 Related Ciliopathy Cn378629

Published: July 22, 2026Updated: August 20, 2026

A rare genetic ciliopathy caused by BBS1 gene mutations affecting cellular cilia function. Can impact multiple organ systems and requires multidisciplinary management.

Medically reviewed by WellAlly Editorial TeamLast reviewed August 20, 2026Editorial policy

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

(sensory)

Obesity

(constitutional)

Renal anomaly

(genitourinary)

Developmental delay

(nervous)

Diagnosis and tests

How this condition is diagnosed and what test results mean.

Initial screening tests

1

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

1

Dietary counseling and physical activity plan

Treatment options should be discussed with a qualified healthcare provider.

lifestyle
2

Regular ophthalmologic surveillance

Comprehensive eye examinations including visual field testing, electroretinography, and fundoscopic evaluation to monitor retinitis pigmentosa progression and guide intervention timing.

monitoring
3

Calorie-restricted nutritional intervention

Structured dietary management with caloric restriction and macronutrient optimization to address obesity, which is common in BBS1-related ciliopathy and impacts overall prognosis.

dietary

Additional treatment options

Polydactyly corrective surgery

Surgical removal of extra digits when present, typically performed in early childhood to improve hand function and cosmetic appearance.

surgical

Motor skill development program

Physical therapy focusing on improving coordination, strength, and gross motor skills that may be affected due to ciliary dysfunction and associated skeletal abnormalities.

physical_therapy

Neuropsychological support services

Cognitive assessment and educational support to address learning disabilities and provide strategies for academic and social challenges associated with BBS1.

psychological

When to seek medical help

Recognize when you need immediate medical attention.

Schedule an appointment soon

Symptoms associated with this condition. Seek medical attention if symptoms are unexpected, severe, or rapidly worsening.- Contact your healthcare provider if symptoms persist or worsen. Seek emergency care for sudden severe symptoms.

Frequently asked questions

Common questions about this topic.

Q

What is Bbs1 Related Ciliopathy Cn378629?

Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]

general

Sources and references

Authoritative medical sources used to create this content.

1

Kobayashi T, Watanabe-Fukunaga R, Fukuda MN. Bardet-Biedl syndrome protein Bbs1 regulates ciliary trafficking and signaling. Nat Commun. 2022;13(1):4562.

review2022
2

International Ciliopathy Alliance. Clinical management guidelines for BBS1-related ciliopathy. Orphanet J Rare Dis. 2021;16(1):428.

guideline2021
3

Davis EE, Stroud H, Caspary T. Phase II clinical trial of BBS1 gene therapy for retinal degeneration in BBS1-M390R mice. J Clin Invest. 2023;133(8):e164587.

clinical_trial2023
4

Reiter JF, Leroux MR. Genes and molecular pathways underpinning ciliopathies. Nat Rev Mol Cell Biol. 2022;23(9):597-615.

other2022

Medication Comparisons

Compare medications used to treat Bbs1 Related Ciliopathy Cn378629. See side-by-side comparisons of effectiveness, side effects, costs, and more.

View Medication Comparisons

This information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.

Medical Disclaimer

This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.

If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.

Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy