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Beckwith Wiedemann Syndrome is a rare, inherited disorder of new born babies in which there is
- lack of glucose in the blood (hypoglycemia),
- overproduction of insulin (hyperinsulin),
- enlargement of the tongue (Macroglossia)
- umblical hernia along with other abnormalities.
The Beckwith-Wiedeman syndrome (BWS) is a rare genetic disorder, linked to an alteration on the short arm of chromosome 11 that comprises multiple congenital anomalies.
Macroglossia is the predominant finding, with subsequent protrusion of dentoalveolar structures, which results in a protruding mandible, anterior open bite, abnormally obtuse gonial angle and increased mandibular length.
Causes of Beckwith Wiedemann Syndrome or Beckwith's Syndrome
Although most cases appear to be sporadic (85%), the etiology of BWS is generally accepted as genetic. Since the clinical findings vary widely and tend to become less obvious with age, the syndrome may be overlooked in adults, thus tending to mask familial inheritance among some previously reported cases.
Present evidence supports autosomal dominant inheritance of BWS, with reduced penetrance and variable expressivity that may relate to the effects of genomic imprinting. (Imprinting is defined as the differential expression of genetic material, at either a chromosomal or an allelic level, depending on whether the genetic material has been inherited from the mother or the father).
Families with more than one relative affected, have been reported, and linkage studies in these familial cases have located the gene for BWS on the short arm of chromosome 11 (11p15.5). This region contains the insulin-like growth factor, Type 2 (IGF2 gene), and the product of this gene is a major fetal growth factor.
Precaution for Beckwith Wiedemann Syndrome or Beckwith's Syndrome
do advise ultrasound exam of the abdomen every 3 months for detection of tumors at a stage when they are still easily curable. This should continue until age 8. The tongue, if still protuberant and interfering with speech and dental development, should be considered for reduction surgery before 4 years of age, in order to give time for improved speech and appearance before the child enters that sociological jungle known as school.
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