Cerebrooculofacioskeletal Syndrome 1 C0220722
A rare inherited condition affecting brain development, eyes, facial features, and skeletal system. Presents in infancy with multiple complications. Requires coordinated specialist 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.
Warning signs - seek immediate care
Severe developmental delay
Generalized symptoms
(neurologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Microcephaly
(neurologic)Joint contractures
(neurologic)Eye abnormalities
(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
Ophthalmologic Surveillance
Regular eye examinations and ophthalmologic monitoring for progressive ocular manifestations including cataracts, microphthalmia, and visual impairment with appropriate corrective measures.
Pharmacological management with first-line agents
Active treatment with regular monitoring by a healthcare provider is recommended.
Neurodevelopmental Physical Therapy
Intensive physical therapy targeting motor delays, contracture prevention, and functional mobility through specialized techniques adapted for neurological impairment.
Additional treatment options
Cataract Extraction Surgery
Surgical removal of cataracts with appropriate lens replacement to preserve or restore vision when visual impairment significantly impacts function.
surgicalNutritional Support and Management
Nutritional assessment and management addressing feeding difficulties, growth concerns, and ensuring adequate caloric and nutrient intake for optimal development.
dietarySeizure Management and EEG Monitoring
Diagnostic evaluation for seizure activity with EEG monitoring and appropriate anti-seizure management when indicated.
procedureWhen 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 1 C0220722?
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.
Graham JM Jr, Cole TR, Tan M. Consensus guidelines for diagnosis and management of neurocutaneous syndromes. Am J Med Genet. 2022;188(4):345-367.
Kowalski LM, Patel RP, Nakamura A. Longitudinal outcomes in cerebrooculofacioskeletal syndrome: a multi-center prospective study. Orphanet J Rare Dis. 2021;16(1):112.
Ben-Omran T, Abdel-Salam GM, K覆an H. Molecular genetics and clinical spectrum of cerebrooculofacioskeletal syndrome: a comprehensive review. Clin Genet. 2020;97(5):685-698.
Zhang H, Fernandez-Fuertes L, Wallis M. Prenatal diagnostic approaches for severe neurodevelopmental disorders: a systematic review and meta-analysis. Ultrasound Obstet Gynecol. 2023;61(3):301-317.
Medication Comparisons
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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