Beckwith-Wiedemann syndrome

Beckwith-Wiedemann syndrome (BWS) is a very rare genetic overgrowth syndrome (prevalence of about 1 in 36,000). This condition is caused either by mutations in DNA or by errors in imprinting.

Symptoms of the illness include macroglossia or 'large tongue'. Macroglossia occurs in approximately 80% of cases and often results in 'floppy' airways which are often treated by a tracheotomy.

External links

The Pediatric Bulletin