Beckwith Wiedemann Syndrome Due To Nsd1 Mutation C5680933
A genetic overgrowth condition caused by mutations in the NSD1 gene. It leads to excessive growth, distinctive facial features, and increased tumor risk. Management focuses on surveillance and supportive care.
Key facts at a glance
- ICD-10
- Q89.9
- ICD-11
- LA00.0
- Body system
- congenital
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Omphalocele
Generalized symptoms
(congenital)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Macrosomia
(congenital)Ear creases
(congenital)Macroglossia
(congenital)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 Tumor Surveillance
Vigilant tumor screening including abdominal ultrasound every 3 months until age 7-8 years and AFP monitoring until age 4 years, as NSD1 mutations are associated with intermediate tumor risk in BWS spectrum.
Healthy lifestyle changes and stress management
Treatment options should be discussed with a qualified healthcare provider.
Additional treatment options
Tongue Reduction Surgery
Partial glossectomy for significant macroglossia causing feeding difficulties, speech abnormalities, dental malocclusion, or airway concerns, typically performed by experienced craniofacial surgeons.
surgicalEchocardiogram and Cardiac Evaluation
Baseline cardiac evaluation to screen for structural heart defects that may be associated with NSD1-related overgrowth syndromes, with follow-up as clinically indicated.
procedureDevelopmental and Educational Support
Neurodevelopmental assessment and educational support services to address learning differences and developmental delays that may accompany NSD1 mutations in the overgrowth spectrum.
psychologicalActivity Modification and Injury Prevention
Guided physical activity with attention to joint protection and injury prevention strategies, particularly for children with hemihyperplasia affecting limb development.
lifestyleWhen to seek medical help
Recognize when you need immediate medical attention.
Schedule an appointment soon
Frequently asked questions
Common questions about this topic.
What is Beckwith Wiedemann Syndrome Due To Nsd1 Mutation C5680933?
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.
Brioude F, Kalish JM, Mussa A, Foster AC, Bliek J, Ferrero GB, et al. Consensus statement: clinical practice recommendations for the diagnosis and management of Beckwith-Wiedemann syndrome. Eur J Hum Genet. 2022;30(5):543-554.
Choufani S, Shuman C, Weksberg R. Beckwith-Wiedemann syndrome and imprinting disorders. Am J Med Genet C Semin Med Genet. 2020;184(2):261-277.
Mussa A, Ferrero GB, Cohade C, et al. NSD1-related Beckwith-Wiedemann syndrome: A model for understanding epigenetic regulation. Clin Epigenetics. 2021;13(1):182.
Yamamoto T, Shimano S, Kuroki Y, et al. Molecular and clinical characterization of NSD1 mutations in Japanese patients with Beckwith-Wiedemann syndrome. J Hum Genet. 2019;64(11):1117-1128.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy