BECKWITHWIEDEMANN SYNDROME

Beckwith-Wiedemann syndrome: translation

Rare developmental disorder with a complex pattern of inheritance suggesting a defect in maternal imprinting. Characteristics are all growth abnormalities - enlarged tongue, gigantism, enlarged adrenal glands, enlarged visceral organs, advanced ageing and predisposition to childhood tumours. Possibly due to a defect in the cyclin-dependent kinase inhibitor, p57KIP2, though in some cases there are two copies of the IGF-2 gene