Mks1 Related Ciliopathies Cn380132
A group of genetic disorders affecting cilia function throughout the body. These severe conditions can involve multiple organs and require comprehensive, multidisciplinary management.
Key facts at a glance
- ICD-10
- Q89.9
- ICD-11
- LA00.0
- Body system
- congenital
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Developmental delay
(nervous)Generalized symptoms
(congenital)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Kidney cyst
(genitourinary)Polydactyly
(musculoskeletal)Retinal degeneration
(eye)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
Multisystem Monitoring Program
Regular comprehensive monitoring for renal cysts, hepatic abnormalities, and neurological manifestations including developmental delay and seizures. Imaging studies and laboratory tests performed at scheduled intervals to track disease progression and guide intervention timing.
Pharmacological management with first-line agents
Active treatment with regular monitoring by a healthcare provider is recommended.
Symptomatic Pharmacological Management
Targeted medication therapy to address specific symptoms such as seizure control, pain management, and treatment of infections. Medications are selected based on individual symptom presentation and adjusted as the disease progresses.
Additional treatment options
Corrective Surgical Interventions
Surgical procedures to address structural complications such as polydactyly, kidney cyst drainage, or shunting for hydrocephalus when medically necessary. Timing determined by functional impact and overall clinical status.
surgicalSpecialized Nutritional Support
Individualized dietary planning to address feeding difficulties, malabsorption, and nutritional deficiencies common in ciliopathy patients. May include modified textures, supplemental feeds, or specific macronutrient adjustments.
dietaryRespiratory Therapy and Airway Clearance
Techniques and devices to maintain respiratory health, including chest physiotherapy, humidification, and treatment of recurrent respiratory infections. Essential for managing chronic sinopulmonary disease characteristic of ciliopathies.
complementaryWhen to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is Mks1 Related Ciliopathies Cn380132?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
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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.
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.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy