Babinski's Reflex
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Beckwith-Wiedemann Syndrome
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Beckwith-Wiedemann Syndrome

Beckwithe-Wiedemann Syndrome, or BWS, is a condition that is present at birth that is characterized by abnormal large growth patterns. It is estimated that it occurs in one in 14,000 live births but it is unclear how accurate that number is for several reasons. There are generally considered to be 5 major markers of BWS and a child needs to present with 2 or 3, depending on the physician, to be labeled with BWS. Some of the markers are more serious than others and some will simply be out grown. Its biggest risk is to certain types of childhood cancers

Symptoms of BWS

As stated there are generally considered to be 5 major markers of BWS. They are macroglossia, marcosomia, abdominal wall defects, abnormal ear growth, and neonatal hypoglycemia. There are a few other markers that are also common in BWS babies but are mostly related somehow related to the 5 major markers.

Marcosomia is simply a very big baby, in the top 10% range. It is not anything that can be fixed but it does not continue into adulthood. BWS babies will be normal sized adults. Neonatal hypoglycemia is another marker that will not follow the baby. The biggest problem here is making sure it is treated because otherwise it can cause brain damage. The abnormal ear growth is generally cosmetic and gets left untreated with new borns. The cosmetic work general happens between 4 and 7 when the head and ears hit scale.

Macroglossia is the over growth of the tongue. It is also seen sometimes in non-BWS babies. This is also generally left untreated; the rest of the baby's head will catch up with their tongues. Occasionally, however, the tongue is too big to allow the mouth to close and impedes eating and speech. If that happens surgery can be performed and a small bit of the tongue removed. The most serious problem is the abdominal defects. These can range from simple hernias to the actual development of organ out side the baby through the umbilicus.

Treatment of BWS

As explained earlier, most of the markers will not need correction. The abdominal problems are another matter. Those will often need surgery to put the babies insides back inside. It sounds terrible but generally it goes well with the biggest problem occurring when organ are enlarged also but once they are tucked back in the body will catch up.

The concern of cancer is really the biggest fear for BWS babies so special attention needs to be kept on them in the form of screenings. Cancer caught early is much more treatable than if caught late.

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