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International Birth Defects Information Systems
Wiedemann Beckwith Syndrome

International Birth Defects Information Systems


Wiedemann Beckwith Syndrome


Topics: | EMG | Exomphalos Macroglossia Gigantism | WBS | Wiedemann Beckwith |

Related Topics : | Abdominal Wall Defects | Disabilities | Birth Defects |

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Beckwith Wiedemann Syndrome
Victor A. McKusick, OMIM, Johns Hopkins University, June 4, 2007
Visitor Comments [for Professionals mainly]
EMG Syndrome Exomphalos Macroglossia Gigantism Syndrome Wiedemann Beckwith; WBS … The cardinal features of this disorder, which is most often referred to as Beckwith Wiedemann syndrome (BWS), are exomphalos, macroglossia, and gigantism in the neonate. This was the origin of the initialism EMG syndrome … BWS patients are at increased risk of developing specific tumors … Caused by mutation in the chromosome 11p15.5 region. Duplication in this region appears to be involved in the pathogenesis and imprinting results in anomalous patterns of transmission. Most cases are sporadic … The enlarged tongue, together with omphalocele or other umbilical abnormalities, permits recognition of the disorder at birth … Many of the affected infants have hypoglycemia in the first days of life, anticipation of this complication can prevent serious neurologic sequelae … 'Typical linear indentations of the lobe' that have become one of the diagnostic criteria … Of 388 children, 29 developed 32 neoplasms … 14 being Wilms tumors and 5 adrenocortical carcinoma. Hemihypertrophy, partial or complete, was noted in 12.5% of the cases but in more than 49% of the children with neoplasms … Wiedemann (1989) commented on overgrowth of the external genitalia in both males and females … Average height of 2.5 SD above the mean at or after puberty … Bone age was significantly advanced in all patients studied … Pregnancies in these cases tended to have polyhydramnios with large placentas that were almost twice the normal placental weight … Large fetal size and polyhydramnios often resulted in early delivery with occasional perinatal mortality. Excessive umbilical cord length was a manifestation of the increased placental size and was a useful sign in suspecting WBS before delivery … The mode of inheritance is complex. Possible patterns include autosomal dominant inheritance with variable expressivity, contiguous gene duplication at 11pl5, and genomic imprinting resulting from a defective or absent copy of the maternally derived gene … That fetal hyperinsulinism may be involved in the latter condition, inasmuch as the insulin gene (INS; 176730) is located in the 11p15 region ...

Beckwith Wiedmann Syndrome
Rosanna Weksberg, PhD, MD, et al., GeneReviews, September 8, 2005
Visitor Comments [for Professionals mainly]
Exomphalos Macroglossia Gigantism Syndrome (EMG Syndrome) … A disorder of growth characterized by macrosomia (large body size), macroglossia, visceromegaly, embryonal tumors (i.e., Wilms tumor, hepatoblastoma, neuroblastoma, rhabdomyosarcoma), omphalocele, neonatal hypoglycemia, and ear creases/pits ...

Beckwith Wiedemann Syndrome (Great Britain)
Contact a Family, 2007
Visitor Comments [Support Groups]
Beckwith Wiedemann: exomphalos - macroglossia - gigantism: neo - natal hypoglycaemia, visceromegaly, hemihypertrophy … There is an increased risk of tumour development, particularly Wilm's (kidney) tumours and children should be seen regularly to screen for these ...

Beckwith Wiedemann syndrome
Sandra R. Silva, MD, et al. theFetus.net, January 18, 2006
Concerned with prenatal aspects. Nicely illustrated … Untreated neonatal hypoglycemia is an important complication and may result in further cerebral dysfunction, such as seizures, mild to moderate mental retardation, or neonatal death in more severe cases. Macroglosia can cause variable complications ranging from feeding difficulties to airway obstruction and death … Neonatal mortality rate is approximately 21% ...

Beckwith Wiedemann Syndrome Family Forum
Beckwith Wiedemann Syndrome Family Forum, June 4, 2007
Visitor Comments [Support Groups] [Dutch] [English] [French] [Hebrew] [Italian] [Romanian] [ Russian] [Spanish]
The Beckwith-Wiedemann Family Forum was created as a way for people from around the world who are interested in BWS to get support and share information.

Glosectomía parcial en un paciente con el síndrome de Beckwith Wiedemann [PDF]
Dr. Manuel Estrada Sarmiento, Rev Cubana Estomatol 1998; 35(1):21-24
Visitor Comments [Spanish]
… Se describe … un niño de 12 años de edad con el síndrome de Beckwith Wiedemann, … macroglosia, entidat patológica que puede modificar severamente el desarrollo de los dientes, … Fue tratado con resultados satisfactorios mediante la glosectomía parcial. Se detalla la técnica quirúgica …

Balangenvereniging Beckwith Wiedemann Syndroom
Visitor Comments [Support Groups] [Dutch]
De websit van de ...

Beckwith Wiedemann Syndrome
I.B.I.S. Birth Defects, February 15, 2002
Visitor Comments [Ukrainian]

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Last Updated: 2008/6/11

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