Beckwith-Wiedemann syndrome

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Beckwith-Wiedemann syndrome

[¦bek‚with ′wēd·ə·män ‚sin‚drōm]
(medicine)
A congenital, generalized overgrowth syndrome attributed to a relative deficiency of maternally derived genes that is characterized by visceromegaly and predisposition to childhood tumors, especially Wilms' tumor.
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She was also diagnosed with Beckwith-Wiedemann syndrome, a rare disorder characterized by overgrowth on one side or parts of the body.
Beckwith-Wiedemann syndrome (BWS) is a genetic disorder at chromosome 11p15 that leads to increased activity of insulin-like growth factor-2 (IGF2) and reduced activity, with no active copy of the inhibitor of cell proliferation, CDKN1C, resulting in excessive growth and increased risk of tumour formation.
Beckwith-Wiedemann syndrome was diagnosed clinically with the presence of an omphalocoele, macroglossia and neonatal hypoglycaemia (i.
4,5] The syndromes that are commonly associated are WAGR, Denys-Drash syndrome, Beckwith-Wiedemann syndrome and various others.
Dysregulation of the IGF2/H19 domain was initially associated with Beckwith-Wiedemann syndrome (BWS) (Engel et al.
The condition that is most often confused with SGBS is Beckwith-Wiedemann syndrome (BWS).
2) Beckwith-Wiedemann syndrome (BWS) and familial adenomatous polyposis have been associated with congenital pancreatoblastomas.
Placental mesenchymal dysplasia is also frequently associated with Beckwith-Wiedemann syndrome, transient neonatal diabetes mellitus, paternal uniparental disomy 6, trisomy 13, and Klinefelter syndrome.
The risk of rhabdomyosarcoma is higher in children with Li-Fraumeni syndrome, neurofibromastosis type 1, Beckwith-Wiedemann syndrome, nevoid basal cell carcinoma (Gorlin) syndrome, and Rubenstein-Taybi syndrome.
This means that subtle variations of methylation in ICRs could represent a drastic deregulation of the expression of imprinted genes, leading to important phenotypic consequences, as observed in the Beckwith-Wiedemann syndrome (6).
Igf2, an important growth factor, is highly active during fetal development and its misregulation leads to overgrowth disorders such as Beckwith-Wiedemann Syndrome.
The differential diagnosis for this disorder includes Beckwith-Wiedemann Syndrome, Klippel-Trenaunay-Weber Syndrome, Neurofibromatosis, lymohangiomatosis, hemangiomatosis, and Mafucci's Syndrome.