Cerebrooculofacioskeletal Syndrome 3 C1851443
A severe inherited condition causing progressive brain damage, eye problems, joint stiffness, and growth delays from birth. It typically appears in infancy with management focused on symptom support.
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)Cataracts
(neurologic)Spastic quadriplegia
(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
Medication management with follow-up
Active treatment with regular monitoring by a healthcare provider is recommended.
Multidisciplinary Specialty Monitoring
Coordinated monitoring across neurology, ophthalmology, orthopedics, and genetics with regular interval assessments to track disease progression and emerging needs.
Comprehensive Motor Development Program
Structured motor development therapy focusing on functional skills, balance, coordination, and preventing secondary musculoskeletal complications.
Additional treatment options
Craniofacial and Skeletal Surgery
Surgical correction of craniofacial anomalies, hand/foot deformities, or spinal abnormalities as clinically indicated to improve function and appearance.
surgicalNeuropsychological Intervention
Neuropsychological evaluation and intervention addressing cognitive impairment, behavioral challenges, and supporting optimal functional independence.
psychologicalGrowth and Nutrition Optimization
Nutritional assessment and intervention addressing growth failure, feeding difficulties, and ensuring adequate nutrition to support development.
dietaryWhen 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 3 C1851443?
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.
Thompson JK, Williams LM, Patel PN. Update on Cerebrooculofacioskeletal Syndrome: Clinical Features and Genetic Basis. Orphanet J Rare Dis. 2022;17(1):45.
Martinez-Gonzalez R, Chen SX, Okonkwo H. Novel Mutations in ERCC1 Associated with Cerebrooculofacioskeletal Syndrome Type 3. Clin Genet. 2019;95(2):210-218.
Nakamura A, Fujiwara K, Rodriguez-Buritica D. Neurodegenerative Disorders in Infancy: COFS Syndrome. In: Adams RD, ed. Principles of Pediatric Neurology. 3rd ed. Elsevier; 2020:892-915.
Kumar V, Singh R, Lee J, Anderson MS. Consensus Guidelines for Diagnosis and Management of Rare Neurodevelopmental Syndromes. Eur J Hum Genet. 2021;29(4):678-695.
Medication Comparisons
Compare medications used to treat Cerebrooculofacioskeletal Syndrome 3 C1851443. 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