Beckwith-Wiedemann syndrome is a genetic disorder caused by errors on the 11th chromosome and characterized by overgrowth of tissue and structures in the body. Symptoms observed in people with this condition vary, as it can manifest in myriad ways, but generally they are born unusually large and will continue to be large for their age as they develop. Treatment of the condition is focused on addressing symptoms, as it is not possible to cure genetic diseases.
Patients with Beckwith-Wiedemann syndrome commonly develop macroglossia or enlarged tongues and can also experience midline abdominal wall defects, low blood sugar at and around birth, and abnormalities in the shape of the ears. Some of these changes can be visible during prenatal testing, as for example in patients with omphalocele, where the intestines are not contained behind the abdominal wall and instead protrude outside the body. This condition is also associated with an increased risk of childhood cancer, with studies suggesting that children with Beckwith-Wiedemann syndrome tend to develop embryonic malignancies.
The majority of patients with this condition are born without any family history of Beckwith-Wiedemann syndrome, and experience it as a result of random mutations. In around 15 percent of cases, there is a family history, although a newborn may have the disease in a slightly different form than seen in other family members. Diagnosis can be complicated, as there isn't a single basic test available for Beckwith-Wiedemann syndrome. Instead, diagnosis involves documenting all symptoms and ruling out other potential causes of those symptoms.
Treatment can include surgery to correct congenital birth defects, medications to manage symptoms, and careful monitoring for signs of childhood cancers and other complications. People with this condition can experience it in varying degrees of severity. Some may need aides and assistants to help them complete daily tasks, while others may have a high degree of independence, especially after treatment to address treatable congenital issues.
In people with a family history of genetic disease, it can be advisable to meet with a genetic counselor before having children. The counselor can discuss family history, offer information about genetic testing, and help people make an informed decision about how to manage their families. People who experience recurrent miscarriages may want to meet with a genetic counselor as well, as it is possible that an underlying genetic issue is causing the miscarriages and parents may need to consider assistive reproduction if they want to have children in these cases.
