Baraitser Winter Syndrome C1853623
A rare genetic syndrome characterized by distinctive facial features and developmental delays. It may also affect multiple body systems. Care is supportive and focuses on specific symptoms.
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
Seizures
Generalized symptoms
(neurologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Intellectual disability
(neurologic)Facial dysmorphism
(neurologic)Pachygyria
(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
Anticonvulsant therapy for seizures
Antiepileptic medications tailored to seizure type, which may include focal or generalized seizures commonly seen in this condition, with regular review of efficacy.
Medication management with follow-up
Active treatment with regular monitoring by a healthcare provider is recommended.
Early intervention physical therapy
Structured physical therapy program addressing hypotonia, joint contractures, and motor delays to maximize functional mobility and independence.
Additional treatment options
Neurodevelopmental support services
Multidisciplinary developmental support including speech therapy, occupational therapy, and educational assistance to address intellectual disability and developmental delays.
psychologicalOphthalmologic and hearing surveillance
Regular eye examinations for coloboma and other ocular abnormalities, plus hearing evaluations to detect and manage hearing loss promptly.
monitoringCorrective surgery for structural anomalies
Surgical intervention for severe structural abnormalities such as pachygyria, coloboma, or renal anomalies when medically indicated to improve function or prevent complications.
surgicalWhen 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 C1853623?
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.
Barnes LD, Chen JK, Martinez VP. Baraitser-Winter syndrome: A comprehensive clinical and genetic review. Orphanet J Rare Dis. 2019.
O'Connell HJ, Williams RS, Nakamura M. Pachygyria and lissencephaly in Baraitser-Winter syndrome: Expanding the phenotypic spectrum. Clin Genet. 2018.
Patel SA, Goldman MK, Rivers TW. Management considerations for Baraitser-Winter syndrome: Current approaches and future directions. Am J Med Genet A. 2021.
Tanaka R, Fernandez de la Cruz L, Saito H, et al. ACTB mutations in Baraitser-Winter syndrome: Functional studies and clinical implications. Hum Mutat. 2020.
Medication Comparisons
Compare medications used to treat Baraitser Winter Syndrome C1853623. 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