Beckwith-Wiedemann syndrome (BWS) is a rare disorder recognized primarily by a consistent grouping of findings of unknown etiology (Ocean State Online, 2001) and is characterized by excessive size and height at birth. For instance, in many males, birth length may be at or above the 95th percentile. Typically, their height remains within this range throughout their adolescent years. Growth closely parallels the normal growth curve. Females, however, are usually born at or about the 75th .percentile, and their height increases to the 95th percentile by 18 months of age. Their height then remains at this percentile throughout adolescence. Many infants also develop advanced bone age within the first 4 years of life. Other features include an unusually large tongue within a gaping mouth; enlarged organs, such as spleen, liver, and heart; umbilical hernias; and creases in the earlobes. Infancy is a very critical period because of the possibility of severe hypoglycemia, increased tumor growth, such as Wilm’s, and gonadoblastoma (National Organization for Rare Disorders, Inc., 2001).
An autosomal dominant syndrome whose hallmarks are enlargement of the tongue and visceral organs, gigantism, and umbilical hernia, often with neonatal hypoglycemia.