Beckwith-wiedemann Syndrome; Bws

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

Beckwith-Wiedemann syndrome is a pediatric overgrowth disorder involving a predisposition to tumor development. The clinical presentation is highly variable; some cases lack the hallmark features of exomphalos, macroglossia, and gigantism as originally described by Beckwith (1969) and Wiedemann (1969) (summary by Weksberg et al., 2010).Mussa et al. (2016) provided a review of Beckwith-Wiedemann syndrome, including the wide spectrum of phenotypic manifestations, delineation of the frequencies of manifestations according to genotype, and discussion of the molecular and epigenetic defects that underlie the disorder.

Genes related to Beckwith-wiedemann Syndrome; Bws

H19
KCNQ1OT1
CDKN1C

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Clinical Features

Top most frequent phenotypes and symptoms related to Beckwith-wiedemann Syndrome; Bws

Intellectual disability
Global developmental delay
Generalized hypotonia
Hearing impairment
Hypertelorism
Neoplasm
Abnormal facial shape
Cleft palate
Pain
Cryptorchidism

And another 104 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Alternative names

Beckwith-wiedemann Syndrome; Bws Is also known as emg syndrome, exomphalos-macroglossia-gigantism syndrome, wiedemann-beckwith syndrome, wbs.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Beckwith-wiedemann Syndrome; Bws Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Chromosome 11-related Beckwith-Wiedemann Syndrome. By Clinical Molecular Genetics Laboratory Johns Hopkins All Children's Hospital (United States). H19, KCNQ1OT1 Specificity 100 % Genes 67 %
Test for Beckwith-Wiedemann Syndrome. By Genome Diagnostics Laboratory University Medical Center Utrecht (Netherlands). CDKN1C, H19, KCNQ1OT1 Specificity 100 % Genes 100 %
Test for Chromosome 11p15.5-Related Russell-Silver Syndrome. By Genome Diagnostics Laboratory University Medical Center Utrecht (Netherlands). H19 Specificity 100 % Genes 34 %
Beckwith-Wiedemann Syndrome. By Genetics Laboratory Shodair Children's Hospital (United States). H19, KCNQ1 Specificity 50 % Genes 34 %
Russell-Silver Syndrome. By Genetics Laboratory Shodair Children's Hospital (United States). H19 Specificity 100 % Genes 34 %
Beckwith-Wiedemann Syndrome (methylation test). By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam (Netherlands). H19, KCNQ1OT1 Specificity 100 % Genes 67 %
Silver-Russel Syndrome (11p15). By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam (Netherlands). H19 Specificity 100 % Genes 34 %
Isolated hemihyperplasia (methylation analysis of KCNQ1OT1 and H19 genes). By CGC Genetics (Portugal). H19, KCNQ1OT1 Specificity 100 % Genes 67 %

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Sources and references

You can check the following sources for additional information.

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