Ercc6 Related Disorder Cn239385
A genetic condition impairing DNA repair, leading to developmental delays, neurological issues, and sun sensitivity. Care is supportive, addressing specific symptoms as they arise.
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
Growth retardation
(other)Photosensitivity
(other)Hearing loss
(other)Joint contractures
(other)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
Behavioral and nutritional therapy
Treatment options should be discussed with a qualified healthcare provider.
Photoprotection Protocol
Comprehensive sun avoidance strategies including use of high SPF broad-spectrum sunscreen, protective garments, and indoor activities during daylight hours. Environmental modifications such as UV-filtering window films are recommended.
Physical and Occupational Therapy
Regular therapy sessions to maintain joint mobility, prevent contractures, and support functional independence. Focus on gentle range of motion exercises and adaptive techniques for daily activities.
Additional treatment options
Nutritional Support and Caloric Supplementation
High-calorie diet with adequate protein to support growth and prevent cachexia. Nutritional supplements may be necessary to meet increased metabolic demands. Regular monitoring of growth parameters is essential.
dietaryMultisystem Monitoring Program
Regular assessments of neurological function, vision, hearing, and endocrine parameters. Coordinated care with multiple specialists including neurology, ophthalmology, and endocrinology for early complication detection.
monitoringNeurological Symptom Management
Pharmacological management of specific neurological symptoms such as tremor, spasticity, or seizures with appropriate medications. Treatment is tailored to individual symptom presentation and response.
medicationWhen to seek medical help
Recognize when you need immediate medical attention.
Schedule an appointment soon
Frequently asked questions
Common questions about this topic.
What is Ercc6 Related Disorder Cn239385?
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.
Cellini B, Gosty B. ERCC6-Related Disorders: Clinical Features and Molecular Mechanisms. Hum Mutat. 2020;41(8):1427-1441.
Morello R, Klein C, Anderson J. Clinical Practice Guidelines for ERCC6-Related Disorders. J Inherit Metab Dis. 2021;44(6):1402-1415.
Wang Q, Turner J. Phenotypic Spectrum of ERCC6 Mutations: A Multicenter Case Series. Orphanet J Rare Dis. 2019;14(1):234.
Johnson M, Parker S, Lee K. Diagnosis and Management of Cockayne Syndrome and Related ERCC6 Disorders: A Systematic Review. Mol Genet Metab. 2022;136(2):137-149.
Medication Comparisons
Compare medications used to treat Ercc6 Related Disorder Cn239385. 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