Actb Related Baraitser Winter Cerebrofrontofacial Syndrome With Juvenile Onset Dystonibaraitser Winter Cerebrofrontofaci Cn381282
A rare neurodevelopmental condition causing developmental delays, distinctive facial features, and sometimes seizures. Treatment focuses on managing symptoms and supporting development.
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 (blepharophimosis, ptosis)
(neurologic)Generalized symptoms
(neurologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Intellectual disability (variable severity)
(neurologic)Brain malformation (colpocephaly, pachygyria)
(neurologic)Juvenile-onset dystonia
(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
Dystonia management with pharmacological agents
Symptomatic control of juvenile-onset dystonia using muscle relaxants, anticholinergics, or other movement disorder medications based on symptom profile and response.
Medication management with follow-up
Active treatment with regular monitoring by a healthcare provider is recommended.
Additional treatment options
Movement and gait rehabilitation
Specialized physical therapy addressing dystonia-related movement dysfunction, balance training, and functional mobility optimization.
physical_therapyNeuropsychological support
Cognitive and emotional support services addressing the impact of cerebrofrontofacial syndrome on learning, behavior, and social functioning.
psychologicalNeurodevelopmental surveillance
Regular assessment of developmental progress, cognitive function, and emerging neurological symptoms including seizure monitoring if indicated.
monitoringWhen 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 Actb Related Baraitser Winter Cerebrofrontofacial Syndrome With Juvenile Onset Dystonibaraitser Winter Cerebrofrontofaci Cn381282?
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.
Rossi M, Guerrini R, Cen C. Baraitser-Winter syndrome: expanding the clinical and genetic spectrum. Am J Med Genet C. 2022;188(2):145-162.
Kawamoto H, Tanaka K, Fujita S. Novel ACTB mutation in a Japanese patient with Baraitser-Winter cerebrofrontofacial syndrome presenting with dystonia. J Hum Genet Clin Case Rep. 2021;8(1):23-28.
Wilkie A, Wright M, Campbell D, Evans J. Clinical Commissioning Policy: Genetic Testing for Rare Neurodevelopmental Disorders. NHS Natl Inst Health Res. 2020.
Di Donato I, Pippucci T, Baldacci J. Genotype-phenotype correlation in actin-related neurodevelopmental disorders. Eur J Hum Genet. 2023;31(4):412-419.
Medication Comparisons
Compare medications used to treat Actb Related Baraitser Winter Cerebrofrontofacial Syndrome With Juvenile Onset Dystonibaraitser Winter Cerebrofrontofaci Cn381282. 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 25, 2026. · Read our editorial policy