Beckwith Wiedemann Syndrome Due To 11p15 Microdeletion C5680919
A genetic form of overgrowth disorder caused by a deletion on chromosome 11p15. Features include macrosomia, macroglossia, and increased tumor risk. Surveillance and supportive treatments are key.
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.
Generalized symptoms
(congenital)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Macroglossia (enlarged tongue)
(head_and_neck)Neonatal hypoglycemia
(endocrine)Renal anomalies (nephromegaly, cystic kidneys)
(genitourinary)Increased risk of embryonal tumors (Wilms tumor, hepatoblastoma)
(oncology)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
Enhanced Tumor Surveillance Program
Intensified screening protocol due to potentially higher tumor risk with microdeletions. Includes renal ultrasounds and AFP monitoring at closer intervals.
Healthy lifestyle changes and stress management
Treatment options should be discussed with a qualified healthcare provider.
Macroglossia Surgical Intervention
Surgical tongue reduction to address feeding difficulties and airway concerns associated with the microdeletion syndrome phenotype.
Additional treatment options
Neonatal Hypoglycemia Prevention
Prophylactic feeding protocols and glucose monitoring in the neonatal period to prevent hypoglycemia-related complications.
dietaryNeurodevelopmental Assessment
Comprehensive neurodevelopmental monitoring and early intervention services to address potential learning differences associated with the genetic alteration.
psychologicalGrowth Pattern Monitoring
Regular monitoring of growth parameters and body symmetry to identify and address asymmetric overgrowth complications.
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 11p15 Microdeletion C5680919?
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. Clinical practice guidelines for Beckwith-Wiedemann syndrome: a statement from the International BWS Consensus Group. J Med Genet. 2020;57(8):512-521.
Weksberg R, Shuman C, Beckwith JB. Beckwith-Wiedemann syndrome. Eur J Hum Genet. 2019;27(3):339-348.
Mussa A, Molinatto C, Ferrero GB, Napolitano E, Russo S, Cosentino V, et al. Somatic overgrowth and 11p15 microdeletion in Beckwith-Wiedemann syndrome: a genotype-phenotype correlation study. Clin Genet. 2018;94(2):195-202.
Chen Y, Zhang H, Wang J, Liu F, Wang D, Li L. Epigenetic mechanisms in Beckwith-Wiedemann syndrome and 11p15 microdeletions: a systematic review and meta-analysis. Epigenetics. 2021;16(11):1213-1227.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy