can you tell me more about Beckwith Weidemann Syndrome?I am sure the others can help you more than I can help you. (Is that a correct English sentence?)
Definition of Beckwith-Wiedemann syndromeBeckwith-Wiedemann syndrome: An overgrowth syndrome, whose clinical manifestations typically include macrosomia (large body size), macroglossia (large tongue), omphalocele (exomphalos), organomegaly (enlarged organs), hemihypertrophy (overgrowth of one side of the body), neonatal hypoglycemia (low blood sugar in the newborn period), and ear creases and ear pits. Patients with this syndrome have an increased risk of embryonal malignancies such as Wilms tumor, hepatoblastoma, neuroblastoma, adrenocortical cancer, and rhabdomyosarcoma.[bgcolor=#fff500]The majority (about 85%) of patients with Beckwith-Wiedemann syndrome (BWS) have no family history of it while a minority (about 15%) of patients have a family history with autosomal dominant transmission of the syndrome. The genetics of BWS appear complex, in part no doubt because the underlying causes of the syndrome are still not entirely clear. In 50% of patients, there is loss of methylation at the KCNQ1OT1 gene in chromosome 11p15 while in 10-20% of patients, there is paternal uniparental disomy of chromosome 11p15. There are mutations in the CDKN1C gene in chromosome 11p15 in 5-10% of cases with no known family history of the syndrome and 40% of familial cases of the syndrome. [/bgcolor] The syndrome is named for the American pediatric pathologist J. Bruce Beckwith (1933-) and the German pediatrician Hans-Rudolf Wiedemann (1915-). In 1964, Wiedemann reported a familial form of omphalocele with macroglossia in Germany and then in 1969, Beckwith described a similar series of patients in the US. Wiedemann coined the term EMG syndrome to describe the combination of exomphalos, macroglossia, and gigantism. In time, the condition was renamed Beckwith-Wiedemann syndrome. It is also sometimes called the Wiedemann-Beckwith syndrome (WBS) because Wiedemann recognized the syndrome before Beckwith.
Overview DefinedOccurrence HistoryDEFINEDBeckwith-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:macroglossia (large tongue)macrosomia (birth weight and length >90th percentile) midline abdominal wall defects (omphalocele, umbilical hernia, diastasis recti) ear creases or ear pitsneonatal hypoglycemia (low blood sugar after birth) 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.OCCURENCEBeckwith-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.HISTORYIn 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.
Craniofacial Most patients with BWS have a noteworthy craniofacial appearance that is includes both major and minor findings associated with BWS. The craniofacial characteristics found in BWS are most noteworthy early in life and become less apparent as children age. [bgcolor=#f5ff00]Major craniofacial findings associated with BWS are macroglossia and ear anomalies. If left untreated, severe macroglossia can cause difficulties with feeding, speech and respiratory complications (Cassidy and Allanson 2001). The ear anomalies found in BWS include anterior linear earlobe creases and or posterior helical ear pits (Pettenati et al.1986). Minor findings regarding facial features include midface hypoplasia and intraorbital creases (Pettenati et al 1986.) Although it is rare, some patients with BWS have been reported to have a cleft palate (Pettenati et al.1986.[/bgcolor]) [bgcolor=#00ff44]Anterior linear ear lobe creases/posterior helical ear pits..[/bgcolor]