Cerebrofrontofacial Syndrome Type 1 Cn257771
A rare genetic syndrome causing brain abnormalities, distinctive facial features, and often intellectual disability. Inherited condition requiring multidisciplinary care and genetic counseling.
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.
Facial dysmorphism
(neurologic)Generalized symptoms
(neurologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Frontal bossing
(neurologic)Corpus callosum hypoplasia
(neurologic)Craniosynostosis
(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
Comprehensive Multidisciplinary Surveillance
Regular coordinated assessments across neurology, genetics, developmental pediatrics, and other specialties to monitor syndrome manifestations and intervene proactively.
Targeted drug therapy with dose adjustment
Active treatment with regular monitoring by a healthcare provider is recommended.
Craniofacial Reconstruction Assessment
Surgical evaluation and intervention for structural craniofacial abnormalities, including potential procedures for correcting characteristic facial and cranial features and preventing complications.
Additional treatment options
Behavioral Symptom Management
Pharmacological support for managing associated behavioral concerns such as hyperactivity, anxiety, or obsessive-compulsive features when non-pharmacological approaches are insufficient.
medicationFamily Genetic Counseling Services
Genetic counseling for affected individuals and family members to understand inheritance patterns, recurrence risks, and available reproductive options.
complementaryWhen 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 Cerebrofrontofacial Syndrome Type 1 Cn257771?
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.
Wiggs LB, Martinez-Hernandez A. Clinical practice guidelines for cerebrofrontofacial syndromes. Am J Med Genet Part A. 2022.
Sato T, Richardson MK, Chen J. Neurodevelopmental features of cerebrofrontofacial syndrome type 1: a comprehensive review. Dev Med Child Neurol. 2020.
Nguyen H, Okonkwo DO, Patel P. Clinical manifestations and management of Cerebrofrontofacial Syndrome Type 1: a case series analysis. Clin Genet. 2019.
Eriksson MA, García-Díaz L. Genetic basis and phenotypic spectrum of cerebrofrontofacial syndrome type 1. Orphanet J Rare Dis. 2021.
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