She was also diagnosed with Beckwith-Wiedemann
syndrome, a rare disorder characterized by overgrowth on one side or parts of the body.
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.
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) 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
Igf2, an important growth factor, is highly active during fetal development and its misregulation leads to overgrowth disorders such as Beckwith-Wiedemann
The differential diagnosis for this disorder includes Beckwith-Wiedemann
Syndrome, Klippel-Trenaunay-Weber Syndrome, Neurofibromatosis, lymohangiomatosis, hemangiomatosis, and Mafucci's Syndrome.