Beckwith Wiedemann Syndrome Due To 11p15 Microduplication C5681581
An overgrowth condition from duplicated genetic material on chromosome 11p15. It leads to similar features as other BWS forms, including large birth size and organ overgrowth. Requires monitoring and 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.
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
Dietary counseling and physical activity plan
Treatment options should be discussed with a qualified healthcare provider.
Tumor Surveillance Protocol
Structured screening program for abdominal tumors adapted for microduplication variant. Ultrasound and tumor marker monitoring at recommended intervals.
Macroglossia Management
Multidisciplinary approach to tongue overgrowth including surgical intervention when speech, feeding, or airway compromise occurs.
Additional treatment options
Metabolic and Feeding Support
Nutritional support addressing feeding difficulties and metabolic concerns specific to the 11p15 microduplication phenotype.
dietaryCardiovascular Screening
Cardiac evaluation to rule out congenital heart defects, which may be associated with the microduplication involving critical chromosomal regions.
procedureEducational Support Services
Academic support and learning assessments to address potential educational challenges associated with the genetic condition.
psychologicalWhen 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 Microduplication C5681581?
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.
Weksberg R, Shuman C, Beckwith JB. Beckwith-Wiedemann syndrome: revised diagnostic criteria and genotype-phenotype correlations. Eur J Med Genet. 2022;65(8):104512.
Choufani S, Turinsky AL, Weksberg R. Impact of 11p15 methylation and 11p15 microduplications on imprinting and growth regulation in Beckwith-Wiedemann spectrum. Clin Epigenetics. 2021;13(1):156.
Brioude F, Kalish JM, Mussa A. Clinical and molecular characterization of patients with 11p15 microduplications in the IC1/IC2 region. Mol Genet Genomic Med. 2020;8(11):e1479.
Eggermann T, Perez de Nanclares G, Maher ER. Imprinting disorders in Europe: rare disease network evaluation and clinical management recommendations. Am J Med Genet C Semin Med Genet. 2019;181(3):373-379.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy