Beckwith Wiedemann Syndrome or BWS

 

Beckwith Weidmann Syndrome is a congenital disorder. This syndrome manifests itself as a large tongue, abdominal wall defects and a large body. Children born with this syndrome are at increased risk of cancer. The adrenal glands are larger than average in children born with this syndrome. This disorder occurs in 1 in 13700 live births and chances of this disorder occurring is 25 per cent  higher in case of children born by IVF procedures.

 

Symptoms of Beckwith Weidmann Syndrome

 

The overgrowth disorder is characterized by the following symptoms:

 

 

1.      Abdominal wall defects

2.      Large tongue

3.      Birth weight and length over the 90th percentile

4.      Ear pits

5.      Low blood sugar after birth.

6.      Enlarged kidneys

7.      Pulmonary and cardiac complications

8.      Hearing loss

9.      Musculoskeletal abnormalities

10.     Skin is reddened on the forehead and the eyelids that normally fade in the initial years.

 

Causes of Beckwith Weidmann Syndrome

 

It is mainly a chromosomal abnormality with defect in chromosome number 11.

 

Prognosis

 

Diagnosis of BWS is usually done by clinical evaluation. Most BWS children are born prematurely but they are larger and heavier than those born with normal gestation time. Children born with this syndrome are prone to cancer. Fortunately most children born with this syndrome grow up to become adults of normal size and intelligence.

 

This disorder in 85 per cent cases occurs in families without prior history of BWS. In 15 per cent of the cases, it occurs in families with a history of BWS. Due to the sporadic and spontaneous nature of this disorder, scientists have been unable to arrive at the cause of this disorder.

 

Treatment and Care

 

All children born with BWS need to be reviewed by a craniofacial team consisting of a surgeon, orthodontist and speech therapist that are familiar with BWS.

 

Surgery in Case of Abdominal Hernia: The most serious symptom of this disorder pertains to abnormalities in the abdominal wall. New born may have a condition where the abdominal organs protrude through the umbilicus. Immediate surgery is advisable under these cases. Babies with umbilical hernias generally do not undergo surgery. The defect corrects itself by the time the child attains school going age.

 

Treatment of Low Blood Glucose Levels: About half of the children born with this condition have low blood sugar levels after birth. This needs to be resolved with regular feedings and doses of glucose. If left unregulated, low blood sugar levels may lead to permanent brain damage.

 

 

 

Treatment for Macroglossia: Macroglossia or large tongue is a typical symptom of this disorder. It is self-correcting and is barely discernable once the child grows to be 3-4 years of age. In cases where the tongue is so large as to make breathing or eating difficult, intervention may be called for.

 

Speech Therapy: Musculoskeletal defects and auditory loss problems may call for help from physic and speech therapists.

 

Cancer Screening: Regular screening for cancer for all children born with BWS is a must as these children are especially susceptible to carcinogenic tumors.



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