Beckwith-Wiedemann Syndrome (BWS) is a congenital overgrowth syndrome, which can affect all systems of the body. It is associated with an elevated risk of embryonic tumor formation.
There is a 20% mortality rate for newborns with BWS. Macroglossia (large tongue), and macrosomia. Organomegaly, adrenocortical cytomegaly, hemihypertrophy, and neonatal hypoglycemia may also been seen. Macroglossia occurs in approximately 80% of cases and often results in 'floppy' airways. Which may require treatment with a tracheotomy. The cause of Beckwith-Wiedemann syndrome is genetic.
BWS gene locus (CDKN1C) is adjacent to the WT1 gene implicated in Wilms' tumor development, and thus the BWS locus has been named WT2. BWS-affected individuals are at an elevated risk of developing Wilms' tumors as well as other neoplasias such as hepatoblastomas. Some cases may be associated with a defect in chromosome number 11. It is affected children are often large at birth. Many have an abdominal wall defect, such as an umbilical hernia or omphalocele. They have a characteristic facial appearance with a gaping mouth and large tongue. Infancy can be a critical period because of low blood sugar (hypoglycemia).
Omphalocele (when existing), and an increased pace of tumor growth. Surgery will be required shortly after birth and an umbilical hernia may too sometimes require correction. Surgery may be needed to cut the knife size. In some cases the knife is accommodated successfully in the lip as the kid grows but frequently the lower jaw is pushed ahead. Some operations for knife decrease are done before the kid is a year older. Speech therapy may be needed in some cases. Usually responds easily to handling with hydrocortisone, intravenous glucose and/or diet within 1 to 4 months.
