Beckwith-Wiedemann syndrome
Beckwith-Wiedemann syndrome (BWS) is a genetic disorder that affects growth and development. It is characterized by features such as overgrowth, an enlarged tongue, and abdominal wall defects. Children with BWS may also have an increased risk of certain tumors, particularly in early childhood.
The syndrome is caused by changes in genes that control growth, often involving the 11p15 chromosomal region. Diagnosis typically involves clinical evaluation and genetic testing. Management focuses on monitoring growth and addressing any associated health issues, including regular screening for tumors.