Beckwith-Wiedemann syndrome

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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.

Hallmarks of the illness include macroglossia or 'large tongue,' omphalocele, umbilical hernia, neonatal hypoglycemia, and hemihypertrophy. Not all of these features appear in every individual with BWS. Macroglossia occurs in approximately 80% of cases and often results in 'floppy' airways which may require treatment with a tracheotomy. BWS also predisposes to certain tumors such as hepatoblastoma and Wilms tumor. For this reason, physicians may recommend periodic screening for evidence of these tumors in children diagnosed early in life with BWS. Screening tests might include abdominal or renal ultrasound imagaing and serum alpha-fetoprotein levels.

See also

• Simpson-Golabi-Behmel syndrome

External links

• The Pediatric Bulletin
• Beckwith-Wiedemann Support Network

OMIM article about BWSTemplate:Disease-stub

de:Beckwith-Wiedemann-Syndrom