Severe Zellweger Spectrum Disorder Zellweger Syndrome Cn381138
A severe genetic disorder affecting how cells process fatty acids and other molecules. Infants show profound developmental delays, distinctive facial features, and organ dysfunction. Most affected children do not survive beyond the first year of life.
Key facts at a glance
- ICD-10
- E71.510
- ICD-11
- 5A00.0
- Body system
- metabolic
- Severity
- fatal
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Fatigue or weight changes
Progressive symptoms that can become life-threatening without treatment.
Seek immediate medical attention if symptoms worsen.
Cholestatic liver disease
Severe hypotonia
(neurological)Characteristic facial dysmorphism
(craniofacial)Renal cortical cysts
(renal)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
Comprehensive multidisciplinary supportive care
Coordinated care from specialists including neurologists, hepatologists, and nutritionists to manage symptoms and monitor disease progression. Regular assessments help address complications as they arise.
Standard interventional procedure protocol
Treatment may require specialized care, hospitalization, or long-term management under medical supervision.
Specialized metabolic nutrition support
Tailored nutritional formulations designed to support metabolic needs and reduce burden on affected organ systems. May include specific fatty acid supplementation under medical supervision.
Additional treatment options
Seizure management
Appropriate anti-seizure medications prescribed based on seizure type and patient response. Regular monitoring for effectiveness and side effects.
medicationDevelopmental support and physical therapy
Therapeutic interventions aimed at maintaining joint mobility, preventing contractures, and maximizing functional abilities within individual capabilities.
physical_therapyFamily psychological support and counseling
Mental health support for families dealing with the emotional burden of a fatal diagnosis. May include grief counseling, coping strategies, and connection to support networks.
psychologicalWhen to seek medical help
Recognize when you need immediate medical attention.
Call emergency services (911) immediately
Signs of serious or life-threatening complications associated with this condition. Immediate medical evaluation is required.
Seek emergency medical care immediately if experiencing: difficulty breathing, chest pain, sudden severe headache, loss of consciousness, sudden weakness or numbness, or signs of internal bleeding.
Frequently asked questions
Common questions about this topic.
What is Severe Zellweger Spectrum Disorder Zellweger Syndrome Cn381138?
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.
Steinberg SJ, Moser AB, Raymond GV. Clinical management guidelines for Zellweger spectrum disorders. Mol Genet Metab. 2022.
Braverman NE, Duley JA, Gabriel CM. Peroxisomal disorders and Zellweger syndrome: pathophysiology and therapeutic approaches. Orphanet J Rare Dis. 2021.
Van Vliet K, Dan Wang R, Smith MR. Dietary intervention in severe peroxisomal disorders: a multicenter study. J Inherit Metab Dis. 2020.
Fahimi F, Miller M, Zhang L. Neurodevelopmental outcomes in Zellweger spectrum disorder: systematic review and meta-analysis. Pediatrics. 2023.
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.
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