Beckwith–Wiedemann syndrome

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A rare developmental disorder (exomphalos–macroglossia–gigantism syndrome, EMG syndrome) with a complex pattern of inheritance caused by mutation or deletion of imprinted genes within the chromosome 11p15.5 region. Specific genes involved include p57 (KIP2), H19, and LIT1 (long QT intronic transcript 1). There are various growth abnormalities, advanced ageing, and predisposition to childhood tumours. Silver–Russell syndrome is caused by hypomethylation defects at 11p15.

Subjects: Medicine and Health.

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