Beckwith-Wiedemann Syndrome: Causes, Symptoms and Treatment

This is one disease that has defied man’s attempts at true understanding, and it is extremely difficult to pin point the specifics of it. Though a lot of things are known and have been said about this disease, regarding its causes, none have been proven to be of any substance. What is known, however, is that it is a genetic disease which occurs from birth; it has been suggested that the majority of those who suffer from this disease inherited it from birth, but there are few with a family history of the disease. This disease is characterized by overgrowths, tumors, and gigantism in organs and other body parts, and is essentially an overgrowth or a growth disorder. It is named after two doctors who made significant discoveries about it.


There are no exact known causes of this disease. They are just known to be genetic in most cases, and are due to birth disorders. Most birth conditions associated with this disease are divided into five main types. They include Macrosomia, which is a term used to describe a condition in which a child is born with weight and length above the normal 90th percentile. Also associated with the disease are macroglossia and ear creases or pits. These affect the middle abdominal walls including the umbilical hernia. Exomphalos and even diastastis can also be responsible for this, coupled with low levels of blood sugar after birth.


The symptoms of the disease are not so pronounced. However, some conditions in the body during and after birth might signal the possibility of this disease. These conditions include being greater than the average 90 percent of infants in weight and length during birth, large tongues, and the enlargement of some of the internal organs of the body called visceromegaly. Another symptom is a torn stomach wall or bellybutton, which causes protrusion of some portions of the abdominal wall or intestines. It can also be associated with the risk of blood cancers, unequal or asymmetric body growth, which is caused by the undue enlargement of one of the structures or parts of the body. Also, when a new born baby has an advanced bone age, to the age of four, these symptoms might be an indication of the occurrence of beckwith-wiedemann syndrome.


The cure and treatment of this disease commonly involve three main approaches. The first is cancer treatment. The next is physiotherapy and orthopedic management, and then surgery. Surgery is mainly done to correct defects that are noticed in the abdominal wall and the tongue. Surgery is also done to correct hernias, but only if they do not self-correct after four years. That of diastasis recti has a history of correcting itself in the long run. Meanwhile the surgery for the tongue is only done if it causes discomfort or even disrupts the feeding of the child. Hemi hypertrophy is treated with, and managed through, physiotherapy and orthopedic help. Cancer treatment is used in the presence of malignancies. This will also involve regular screening.

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