What is Beckwith-Wiedemann Syndrome?
Posted on January 24, 2008
» Filed Under Diseases |
One in 15,000 births will be affected by BWS, not including the more mildly affected cases that may go undiagnosed. There is some evidence that BWS is an inherited trait, although the majority of cases appear to be isolated events with no known relatives affected by the same disorder. There is such a vast majority of characteristics associated with the disease that most of the effected children show few of these. The most common of the characteristics are as follows; premature birth, Macrosomia, Macroglossia, Nevus Flammeus, Ear Lobe creases, Abdominal Wall defects, Visceromegaly, Hypoglycemia, Hemihypertrophy, Cardiomegaly or Structural Cardiac Abnormalities, Hepatoblastoma, and Wilms Tumors.
Born premature yet heavier and bigger than one would expect from a shorter gestation period, these children are usually in the 95th percentile for there height and weight. Macroglossia refers to an enlarged tongue, which may cause breathing, feeding and speaking difficulties. Due to the size of the tongue, most BWS children have enlarged jaws and increased respiratory illnesses, such as excessive mucus, Bronchitis, and Ashma. Treatment of the enlarged tongue is done surgically after the allowance of growth and settlement of the jaw bone and tongue size. Surgery may be necessary to reduce the tongue size. Some operations for tongue reduction are done before the child is a year old. Speech therapy may be necessary in some cases. All BWS children should be reviewed by a craniofacial team (surgeon, orthodontist and speech therapist) familiar with BWS. Usually, in the first year of birth the eyelids and skin on forehead appears to be red, although this discoloration gradually fades. Ear lobe creases are small indentations usually found present behind the ear lobe and are used to help identify the disorder.
Abdominal Wall defects vary in severity, the less serious of these are umbilical hernia and undue weakness and separation of the abdominal muscles, giving these children a pot-bellied appearance, and possible constipation. While the more severe problem is an omphalocele which allows intestines and possibly other organs to protrude externally into a covering membrane. Leaving almost a bag of organs outside of the body. If an omphalocele is present, surgery will be required soon after birth and an umbilical hernia may also sometimes need correction. Documentation shows there may also be enlarged abdominal organs, usually the kidneys, liver, spleen, adrenals and pancreas.
Hypoglycemia is a disorder that if it goes undiagnosed and treated it could cause brain damage and other complications. This disorder occurs in approximately 40% of all BWS children shortly after birth, and is due to Low Blood Sugar. Usually responding well to treatment with hydrocortisone, intravenous administration of glucose and starting a diet within 1 to 4 months of age.
Hemihypertrophy is an overgrowth of one half of the body or of one limb while the rest of the body grows at a normal rate and may require orthopedic surgery for treatment. A relatively uncommon trait of BWS is an enlarged heart or other heart defects. A very serious affect of the disease are both Wilms Tumors and Hepatoblastoma, two different types of tumors. Wilms are tumors of the kidneys that around 7.5% of BWS children will develop. This type of tumor is so aggressive that abdominal Ultrasounds must be performed every three months up to age eight. While Hepatoblastoma are Liver Tumors whose risk diminishes after the age of three. These are monitored through both the quarterly Ultrasounds and afp (alpha-feta-protein) levels also found quarterly in the blood.
The great majority of children who survive infancy, are usually healthy, with their growth and appearance gradually becoming normal. The difficulties of being a child with a disability well under their belt, they are ready to take on the world. After years of Doctors, procedures and the necessary un-ending love of a parental figure, these children are not afraid of anything. Wanting so badly to be out in the world of experience, nothing can stop them now!
Rae Serenity
http://www.myspace.com/rae_serenity
Article Author :Rae_Serenity
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