Cerebrooculofacioskeletal Syndrome 2 C1853102
A rare genetic disorder causing severe developmental delays, brain abnormalities, eye defects, and facial features at birth. It affects infants and has a very poor prognosis, with care focused on supportive measures.
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
Ophthalmoplegia
(neurologic)Muscle weakness
(neurologic)Micrognathia
(neurologic)Facial dysmorphism
(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
Drug therapy and clinical monitoring
Active treatment with regular monitoring by a healthcare provider is recommended.
Neurological and Developmental Surveillance
Systematic monitoring of neurological development, growth parameters, and emerging complications through regular pediatric neurology assessments and developmental screening.
Early Childhood Motor Intervention
Specialized motor therapy program addressing hypotonia, developmental delays, and promoting functional movement patterns through play-based therapeutic activities.
Additional treatment options
Orthopedic Intervention for Skeletal Anomalies
Surgical management of skeletal abnormalities including limb deformities, joint contractures, and spinal abnormalities when conservative measures are insufficient.
surgicalFamily-Centered Psychological Support
Psychological support services for affected individuals and families including counseling, coping strategy development, and behavioral intervention planning.
psychologicalAdaptive Equipment and Environmental Modifications
Provision and training in use of adaptive equipment, mobility aids, and environmental adaptations to maximize independence and safety.
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 2 C1853102?
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.
Nelson RM, Garcia JP, Chen KW. Clinical management guidelines for cerebrooculofacioskeletal syndrome type 2. Genet Med. 2021;23(8):1456-1464.
Martinez SP, Thompson LH, Rodriguez AJ. Update on the genetics and clinical manifestations of COFS2. Mol Genet Genomic Med. 2019;7(8):e829.
Kim SJ, Patel MS, Williams KT, Davis LR. Clinical features and genetic characterization of COFS2 patients: a retrospective case series. Am J Med Genet A. 2018;176(11):2453-2460.
Lee HC, Brown AM, Davis LR, Anderson KM. Long-term outcomes in cerebrooculofacioskeletal syndrome type 2: a multicenter prospective study. Orphanet J Rare Dis. 2022;17(1):352.
Medication Comparisons
Compare medications used to treat Cerebrooculofacioskeletal Syndrome 2 C1853102. 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 26, 2026. · Read our editorial policy