Beckwith Wiedemann Syndrome Due To Paternal Uniparental Disomy Of Chromosome 11 C5680249
A genetic overgrowth disorder caused by abnormal chromosome 11 imprinting. It affects infants and children, causing organ enlargement and increased tumor risk. Management involves regular screening and multidisciplinary 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
Neonatal hypoglycemia
Generalized symptoms
(congenital)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Macroglossia
(congenital)Hemihyperplasia
(congenital)Macrosomia
(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
Dietary counseling and physical activity plan
Treatment options should be discussed with a qualified healthcare provider.
Intensive Tumor Surveillance Program
Comprehensive screening protocol with abdominal ultrasound every 3 months until age 7-8 years, AFP levels every 3 months until age 4 years, and clinical examinations to detect embryonal tumors associated with paternal UPD.
Additional treatment options
Neonatal Abdominal Defect Management
Multidisciplinary management of omphalocele including possible silo placement, conservative wrapping for small defects, or staged surgical repair with pediatric surgery and neonatology coordination.
surgicalHyperinsulinism Management
Treatment of neonatal hyperinsulinemic hypoglycemia with dextrose infusions, diazoxide, and potentially octreotide for severe cases unresponsive to standard therapies.
medicationHemihyperplasia Orthopedic Management
Serial limb length assessment with planned orthopedic intervention such as epiphysiodesis, guided growth procedures, or lengthening surgeries to address leg length discrepancy.
surgicalMultidisciplinary Care Coordination
Integration of care across genetics, endocrinology, oncology, surgery, and developmental services to address the complex needs of patients with paternal UPD-related BWS through coordinated appointments and communication.
complementaryWhen 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 Paternal Uniparental Disomy Of Chromosome 11 C5680249?
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 and assisted reproductive technology: molecular and clinical insights. Hum Genet. 2020.
Choufani S, McGowan-Jordan J, Lemyre E, et al. Consensus statement on the management of Beckwith-Wiedemann syndrome. Nat Rev Endocrinol. 2022.
Mussa A, Ferrero GB, Calzi F, et al. Prospective surveillance for tumor development in Beckwith-Wiedemann syndrome patients: a multicenter cohort study. J Pediatr. 2021.
Brioude F, Kalish JM, Mussa A, et al. Clinical and molecular diagnosis, screening and treatment of Beckwith-Wiedemann syndrome: an international consensus statement. Nat Rev Genet. 2023.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy