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Beckwith-Wiedemann Syndrome

Overview

Beckwith-Wiedemann syndrome is the medical name given to indicate the congenital growth defect present in the body of the infant, which may lead to large body size, large organs and other symptoms. Various types of tumors are seen in the body of the patient with this disease. The tumors such as adrenal carcinoma, Wilm’s tumor, etc are seen in the body of the infants with low blood sugar and omphalocele. This disease may lead to increased risk of childhood cancer.


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Causes

Most of the time, the Beckwith-Wiedemann syndrome is idiopathic in nature. Though, it may also be hereditary in some of the patients. The defect in chromosome number 11 may lead to this disease.


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Signs & Symptoms

The patient suffering from beckwith-Wiedemann syndrome has the following symptoms:-

  • The patient, generally infants, may have abdominal wall defect, called umbilical hernia or omphalocele.
  • The infant may also have creases in the ear lobes.
  • The organs of the body may get enlarged.
  • There may be abnormalities in the pinna and low-set ears.
  • The infant’s tongue, eyes and other parts of the body may be extremely large.
  • He may suffer from lethargy and low blood sugar.
  • The patient may also suffer from mild microcephaly and poor feeding problems.
  • There are separated abdominal muscles and seizures in the patients.
  • There may also be undescended testicles in some of the infants.
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Prevention

There is no known prevention of this disease, though genetical counseling may be done to detect the problem early.


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Treatments
Intravenous administration Modern Medicine

Low blood sugar may be treated with intravenous solutions administered through veins. Defective abdominal walls are repaired. 

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