Defined
Occurrence
History
DEFINED
Beckwith-Wiedemann syndrome (BWS) is an overgrowth disorder present at birth characterized by an increased risk of childhood cancer and certain features. Five common features used to define BWS are:
- macrosomia (birth weight and length >90th percentile)
Most children with BWS do not have all of these five features. In addition, some children with BWS have other findings including: nevus flammeus, prominent occiput, midface hypoplasia, hemihypertrophy, genitourinary anomalies, cardiac anomalies, musculoskeletal abnormalities, and hearing loss. Also, some premature newborns with BWS do not have features associated with BWS immediately after birth but develop such features later. For more information about the incidence of different findings in patients with BWS please see Statistics from the BWS Registry.
Given the variation among individuals with BWS and the lack of a simple diagnostic test or consensus criteria, identifying BWS can be difficult. In an attempt to standardize the classification of BWS for the BWS Registry, we have defined a child as having BWS if the child has been diagnosed by a physician as having BWS and if the child has at least two of the five common features associated with BWS (macroglossia, macrosomia, midline abdominal wall defects, ear creases/ear pits, neonatal hypoglycemia).
While most children with BWS do not develop cancer, children with BWS do have a significantly increased risk of cancer. Children with BWS are most at risk during early childhood and should receive cancer screening during this time.
In general, children with BWS do very well and grow up to become adults of normal size and intelligence usually without the syndromic features of their childhood.
Please click here for two educational brochures (Understanding Overgrowth Syndromes, Understanding Beckwith-Wiedemann Syndrome and Isolated Hemihyperplasia) from St. Louis Children's Hospital and Washington University School of Medicine.
OCCURENCE
Beckwith-Wiedemann syndrome has an estimated incidence of 1:14,000 births, meaning that about 300 children with BWS are born each year in the United States. We do not know the exact incidence of BWS because of marked variability in the syndrome’s presentation and difficulties with diagnosis. The above statistic may be an underestimate of the true incidence of BWS because many mild cases may not be diagnosed.
BWS has been documented in a variety of ethnic groups and occurs equally in males and females.
HISTORY
In the 1960s, Dr. J. Bruce Beckwith, an American pathologist, and Dr. Hans-Rudolf Wiedemann, a German pediatrician, independently reported cases of a proposed new syndrome. Originally termed EMG syndrome (for Exomphalos, Macroglossia, and Gigantism), this syndrome over time became known as Beckwith-Wiedemann syndrome.