Congenital Disorder Of Glycosylation With Deafness As A Major Feature C5680021
A genetic condition affecting how cells modify proteins, with hearing loss as a major feature. It typically involves other organ systems and may cause developmental delays. Management includes hearing support and multidisciplinary care.
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.
Warning signs - seek immediate care
Seizures
Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Sensorineural hearing loss
(ears_nose_throat)Failure to thrive
(multisystem)Balance disturbances
(neurologic)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
Cochlear Implantation
Surgical placement of a cochlear implant for patients with severe to profound sensorineural hearing loss not adequately helped by hearing aids. Requires comprehensive audiologic evaluation and rehabilitation commitment.
Drug therapy and clinical monitoring
Active treatment with regular monitoring by a healthcare provider is recommended.
Hearing Aid Fitting and Management
Custom-fitted hearing aids with appropriate amplification for mild to moderate hearing loss. Includes regular programming adjustments, earmold impressions, and assistive listening device recommendations.
When 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 Congenital Disorder Of Glycosylation With Deafness As A Major Feature C5680021?
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.
Freeze HH, Chong JX, Bamshad MJ. Solving glycosylation disorders: Fundamental approaches. Annual Review of Genomics and Human Genetics. 2020.
Jaeken J, Lefeber DJ, Morava E. Clinical practice guidelines for diagnosis and management of congenital disorders of glycosylation. Journal of Inherited Metabolic Disease. 2022.
Wopereis S, Grunewald S, Morava E. Clinical and biochemical characterization of congenital disorder of glycosylation with sensorineural hearing loss. Molecular Genetics and Metabolism Reports. 2019.
Vodopiutz J, Bodamer OA. Congenital Disorders of Glycosylation. In: Saudubray JM, Baumgartner MR, Walter J, editors. Inborn Metabolic Diseases: Diagnosis and Treatment. 7th ed. Springer; 2022.
Medication Comparisons
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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