Morquio Syndrome C C2931140
An inherited metabolic disorder impairing the body's ability to break down sugar chains, causing bone, joint, and organ problems. Enzyme therapy and supportive care are the main treatment approaches.
Key facts at a glance
- ICD-10
- E88.9
- ICD-11
- 5A00.0
- Body system
- metabolic
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Skeletal dysplasia
(metabolic)Joint stiffness
(metabolic)Corneal clouding
(metabolic)Hearing loss
(metabolic)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
Enzyme Replacement Therapy (Elosulfase alfa)
Intravenous enzyme replacement therapy designed to provide exogenous enzyme that can be taken up by cells and reduce accumulated keratan sulfate. Regular infusions help slow disease progression and improve endurance.
Evidence-based pharmacological treatment
Active treatment with regular monitoring by a healthcare provider is recommended.
Orthopedic Intervention
Surgical procedures to correct skeletal deformities including spinal fusion for cervical instability, hip reconstruction, and limb alignment procedures. Addresses life-threatening atlantoaxial subluxation and improves mobility.
Additional treatment options
Adapted Physical Therapy Program
Specialized exercise program focusing on joint mobility, strength preservation, and safe mobility techniques. Includes respiratory exercises to maintain pulmonary function and prevent contractures.
physical_therapyComprehensive Multi-System Surveillance
Regular monitoring of cardiac function, pulmonary status, hearing, vision, and neurological parameters. Includes periodic imaging of spine and hips to detect progressive changes requiring intervention.
monitoringMobility Aids and Accessibility Adaptations
Provision and training with appropriate assistive devices including custom orthotics, walkers, wheelchairs, and home/vehicle modifications to maximize independence and safety while conserving energy.
lifestyleWhen 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 Morquio Syndrome C C2931140?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalMedication Comparisons
Compare medications used to treat Morquio Syndrome C C2931140. 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.
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