Beckwith-Wiedemann Syndrome (BWS)

Beckwith-Wiedemann Syndrome, also known as BWS, is a rare genetic disorder characterized by overgrowth, specific physical features, and an increased risk of developing certain tumors.

Causes

BWS is typically caused by genetic alterations or mutations in a person’s genes. The most common cause is the abnormal regulation of a gene cluster on chromosome 11, which leads to the overgrowth and other symptoms associated with the syndrome.

Symptoms

BWS is known for its distinctive physical features, including large size at birth, especially in the tongue, kidneys, and abdominal organs. Other common symptoms include omphalocele (a birth defect involving the abdominal wall), ear creases or pits, hypoglycemia (low blood sugar), and an increased risk of certain childhood tumors.

Treatment

The management of BWS primarily focuses on addressing the specific symptoms and associated complications. This may involve surgical interventions for omphalocele or macroglossia (enlarged tongue), regular screening for tumor development, and various supportive measures to ensure the individual’s overall well-being.

Prognosis

The long-term outlook for individuals with BWS varies depending on the severity of their symptoms and the development of associated complications. With proper management and regular medical follow-ups, most individuals with BWS can lead fulfilling lives and achieve normal developmental milestones.