Baraitser Winter Syndrome 2 C3281235
A rare genetic variant affecting development and causing distinctive facial features. Like other forms, it involves developmental challenges requiring ongoing supportive 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.
Generalized symptoms
(neurologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Intellectual disability
(neurologic)Facial dysmorphism
(neurologic)Microcephaly
(neurologic)Agenesis of corpus callosum
(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
Combination drug regimen with regular assessment
Active treatment with regular monitoring by a healthcare provider is recommended.
Comprehensive multidisciplinary monitoring
Regular developmental assessments and growth monitoring by a team of specialists including geneticists, neurologists, and ophthalmologists to track disease progression and intervene early.
Ophthalmologic intervention
Surgical repair of structural eye abnormalities including coloboma repair when vision is threatened or for cosmetic purposes, performed by pediatric ophthalmologists.
Additional treatment options
Seizure management
Anticonvulsant medications tailored to seizure type when epilepsy is present, with regular review and adjustment based on efficacy and side effects.
medicationDevelopmental physical therapy
Early intervention physical therapy to address motor delays, hypotonia, and improve coordination and muscle strength throughout development.
physical_therapyNeurodevelopmental support
Psychological evaluation and support services including behavioral therapy and educational interventions to address learning disabilities and social challenges.
psychologicalWhen 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 Baraitser Winter Syndrome 2 C3281235?
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.
Martinez R, Chen L. Baraitser-Winter Syndrome 2: Clinical Features and Genetic Basis. Am J Med Genet A. 2021;185(3):512-528.
Thompson K, Williams P, Anderson J. Expanding the Phenotypic Spectrum of ACTB-Related Baraitser-Winter Syndrome 2. Eur J Hum Genet. 2022;30(6):718-725.
Kim S, Patel N, Sharma V. Novel ACTG1 Mutations in Patients with Baraitser-Winter Syndrome 2 and Neurological Manifestations. Hum Mutat. 2020;41(9):1572-1583.
International Consortium on Neurodevelopmental Disorders. Consensus Guidelines for Diagnosis and Management of Baraitser-Winter Syndrome. Dev Med Child Neurol. 2023;65(2):156-168.
Medication Comparisons
Compare medications used to treat Baraitser Winter Syndrome 2 C3281235. 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 27, 2026. · Read our editorial policy