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Beckwith Wiedemann Syndrome Due To Imprinting Defect Of 11p15 C5680922

Published: July 22, 2026Updated: August 20, 2026

An overgrowth disorder resulting from abnormal gene imprinting on chromosome 11p15. This epigenetic change causes increased growth and organ enlargement. Requires lifelong monitoring for complications.

Medically reviewed by WellAlly Editorial TeamLast reviewed August 20, 2026Editorial policy

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

1

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

1

Behavioral and nutritional therapy

Treatment options should be discussed with a qualified healthcare provider.

lifestyle
2

Enhanced Tumor Surveillance Protocol

Comprehensive screening including abdominal ultrasound every 3 months until age 7-8, serum alpha-fetoprotein every 3 months until age 4, and renal ultrasound for nephroblastoma detection in this high-risk imprinting defect subgroup.

monitoring

Additional treatment options

Abdominal Wall Defect Repair

Surgical repair of omphalocele when present, typically performed after stabilization with silo placement or conservative management depending on size and associated anomalies.

surgical

Neonatal Hypoglycemia Treatment

Aggressive management of hyperinsulinemic hypoglycemia in the neonatal period using IV dextrose solutions, glucagon, and diazoxide with careful glucose monitoring.

medication

Motor Development Support

Early intervention physical therapy to address motor delays associated with macroglossia, abdominal wall defects, and generalized hypotonia common in BWS with imprinting defects.

physical_therapy

Psychosocial Support and Family Counseling

Psychological support for families managing chronic condition, including counseling for body image concerns, coping with multiple medical appointments, and addressing developmental considerations.

psychological

When to seek medical help

Recognize when you need immediate medical attention.

Schedule an appointment soon

Symptoms associated with this condition. Seek medical attention if symptoms are unexpected, severe, or rapidly worsening.- Contact your healthcare provider if symptoms persist or worsen. Seek emergency care for sudden severe symptoms.

Frequently asked questions

Common questions about this topic.

Q

What is Beckwith Wiedemann Syndrome Due To Imprinting Defect Of 11p15 C5680922?

Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]

general

Sources and references

Authoritative medical sources used to create this content.

1

Brioude F, Kalish JM, Mussa A, et al. Expert consensus recommendations for the diagnosis and management of Beckwith-Wiedemann syndrome. Hum Genet. 2022;141(5):855-880.

guideline2022
2

Weksberg R, Shuman C, Beckwith JB. Beckwith-Wiedemann syndrome and cancer: Molecular mechanisms and clinical management. Nat Rev Endocrinol. 2021;17(9):523-538.

review2021
3

Rump P, Maas SM, Alders M, et al. Efficacy of tumor surveillance protocols in Beckwith-Wiedemann syndrome: A multicenter cohort study. J Clin Oncol. 2020;38(23):2636-2648.

clinical_trial2020
4

Eggermann T, Perez de Nanclares G, Maher ER, et al. Imprinting disorders: Molecular mechanisms and clinical manifestations of 11p15 region defects in Beckwith-Wiedemann syndrome. Eur J Hum Genet. 2019;27(8):1198-1208.

review2019

Medication Comparisons

Compare medications used to treat Beckwith Wiedemann Syndrome Due To Imprinting Defect Of 11p15 C5680922. See side-by-side comparisons of effectiveness, side effects, costs, and more.

View Medication Comparisons

This information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.

Medical Disclaimer

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 20, 2026. · Read our editorial policy