Gourt > Health > Conditions and Diseases > Genetic Disorders > Beckwith Wiedemann Syndrome (1)
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.
Babies conceived by in vitro fertilisation (IVF) are three to four times more likely to develop the conditionhttp://www.bbc.co.uk/sn/tvradio/programmes/horizon/ghostgenes.shtml.
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Beckwith-Wiedemann Syndrome - A definition, along with a look at the alternate names, causes, incidence and risk factors.
BWSN: Beckwith-Wiedemann Syndrome - Information about this organization, created for parents, professionals, and others interested in this disease. An invitation to join an email support group.
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National Library of Medicine - weckwith-wiedemann syndrome, a list of synonyms, a summary and a major features.
The CaF Directory - A description of beckwith-wiedemann syndrome, features, and possible complications. Also information about a support group.
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