Beckwith-Wiedemann syndrome

Beckwith-Wiedemann syndrome (BWS), also known as Wiedemann-Beckwith syndrome or EMG syndrome (exomphalos-macroglossia-gigantism syndrome), is a congenital overgrowth disorder that affects multiple body systems. It is the most common overgrowth syndrome and is caused by dysregulation of imprinted genes on chromosome 11p15.5, involving the IGF2 and CDKN1C genes among others. The condition is characterized by prenatal and postnatal overgrowth (macrosomia), macroglossia (enlarged tongue), abdominal wall defects (such as omphalocele, umbilical hernia, or diastasis recti), visceromegaly (enlarged abdominal organs), hemihyperplasia (asymmetric overgrowth of one side of the body), neonatal hypoglycemia, ear anomalies (anterior ear lobe creases and posterior helical pits), and an increased risk of embryonal tumors, particularly Wilms tumor and hepatoblastoma. The clinical presentation of BWS is highly variable, even among affected members of the same family. Some individuals may have only mild features, while others present with significant medical complications. Neonatal hypoglycemia can be severe and requires prompt management to prevent neurological damage. The enlarged tongue may cause feeding difficulties, speech problems, and airway obstruction in some cases. The risk of embryonal tumor development is estimated at approximately 7-8% and is highest in the first 8-10 years of life, necessitating regular tumor surveillance with abdominal ultrasound and serum alpha-fetoprotein screening. There is no cure for BWS, and treatment is directed at managing specific symptoms and complications. Neonatal hypoglycemia is treated with glucose supplementation and monitoring. Surgical intervention may be required for abdominal wall defects and, in some cases, tongue reduction surgery (glossectomy) is performed to address macroglossia. Tumor surveillance protocols are a critical component of management, typically involving abdominal ultrasound every three months until approximately age 7-8 years. Orthopedic management may be needed for significant limb length discrepancy due to hemihyperplasia. With appropriate monitoring and management, the prognosis for most individuals with BWS is favorable, and many features of the condition improve or resolve with age.

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

Common questions about Beckwith-Wiedemann syndrome