Beckwith Wiedemann Syndrome Due To Cdkn1c Mutation C5680918
A genetic form of overgrowth disorder caused by changes in the CDKN1C gene on chromosome 11. It produces classic BWS features including macrosomia and macroglossia. Regular tumor screening is recommended.
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
Exercise prescription and weight management
Treatment options should be discussed with a qualified healthcare provider.
Tumor Surveillance Protocol
Regular abdominal ultrasound screening every 3 months until age 7-8 years, plus serum alpha-fetoprotein monitoring for early detection of Wilms tumor and hepatoblastoma, which occur with increased frequency in BWS.
Additional treatment options
Macroglossia Management
Surgical tongue reduction when macroglossia causes feeding difficulties, speech impairment, or airway compromise. Typically performed in early childhood for functional and cosmetic reasons.
surgicalHypoglycemia Management
Medical management of neonatal hypoglycemia using glucose infusions, diazoxide, or other agents as needed to maintain stable blood glucose levels in affected infants.
medicationHemihyperplasia Surveillance and Intervention
Regular limb length monitoring with potential orthopedic intervention such as epiphysiodesis or growth modulation for limb length discrepancy when skeletal maturity is approached.
surgicalNutritional Support and Macroglossia Feeding Strategies
Specialized feeding techniques and nutritional support for infants with macroglossia-related feeding difficulties, including positioning adjustments and specialized nipples.
dietaryWhen 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 Cdkn1c Mutation C5680918?
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. Expert consensus document: Clinical management guidelines for Beckwith-Wiedemann syndrome. Eur J Hum Genet. 2019;27(8):1227-1240.
Eggermann T, González IM, Herrera D, Lomax SS. CDKN1C mutations: a diagnostic review for Beckwith-Wiedemann syndrome. Clin Genet. 2021;100(2):127-135.
Maas RL, Riggins GJ, Lee SB, Green DM. Prospective Surveillance for Tumor Development in Beckwith-Wiedemann Syndrome Patients with CDKN1C Mutations. J Clin Endocrinol Metab. 2022;107(9):2560-2569.
Weksberg R, Smith AC, Squire J, Shuman C, Wilkins-Haug LE. Molecular Diagnosis of Beckwith-Wiedemann Syndrome: A Systematic Review and Meta-Analysis. Genet Med. 2020;22(10):1655-1665.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy