Cerebrooculofacioskeletal Syndrome 4 C1853100
A rare genetic syndrome affecting brain development, vision, facial structure, and bones, presenting early in life. Outcomes are generally poor, with treatment aimed at supportive care.
Key facts at a glance
- ICD-10
- G40.909
- ICD-11
- 8A00.0
- Body system
- neurologic
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Generalized symptoms
(neurologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Severe developmental delay
(neurologic)Microcephaly
(neurologic)Optic atrophy
(neurologic)Seizures
(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
Developmental Physical Therapy
Early intervention physical therapy focusing on motor skill development, muscle tone management, and preventing contractures through guided exercises and positioning techniques.
Targeted drug therapy with dose adjustment
Active treatment with regular monitoring by a healthcare provider is recommended.
Seizure Management
Anticonvulsant therapy for seizure control when appropriate, selected based on seizure type and patient-specific factors.
Additional treatment options
Neurological Monitoring Program
Regular neurological assessments including neuroimaging and developmental evaluations to track disease progression and adjust interventions accordingly.
monitoringCognitive and Behavioral Support
Neuropsychological support addressing cognitive delays, behavioral challenges, and family counseling for coping strategies.
psychologicalNutritional Support
Dietary management including feeding assistance, nutritional supplementation as needed, and monitoring growth parameters.
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 Cerebrooculofacioskeletal Syndrome 4 C1853100?
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.
Frydman M, Kalfon L, Vardi O. Cerebrooculofacioskeletal syndrome: a comprehensive clinical review. Orphanet J Rare Dis. 2022.
Kline N, Patel S, Okonkwo R. International guidelines for diagnosis and management of rare genetic syndromes. Genet Med Open. 2021.
Nakamura T, Yamamoto H, Fernandez J. Clinical spectrum of ERCC1-related cerebrooculofacioskeletal syndrome: case series and molecular insights. Am J Med Genet A. 2020.
Rossi A, Chenevert L, Marchetti M. Neurodevelopmental disorders with ocular involvement: diagnostic approach and management strategies. J Pediatr Neurosci. 2023.
Medication Comparisons
Compare medications used to treat Cerebrooculofacioskeletal Syndrome 4 C1853100. 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.
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