Definition

What is Beckwith-Wiedemann syndrome?

Beckwith-Wiedemann Syndrome is a genetic pathological condition in which the infant born is overgrown or in other words significantly larger than what the norm is. Such infants tend to grow much taller than their peers of their age in childhood. This abnormal growth due to Beckwith-Wiedemann Syndrome starts to slow down when the child reaches about age 9 and hence adults with this condition are not unusually tall and hence it is hard to differentiate from people who have Beckwith-Wiedemann Syndrome and those who do not have this.

In some cases of Beckwith-Wiedemann Syndrome, some children may have a specific body part on one side or the other that may be abnormally longer than the other side which tends to cause an asymmetry or uneven appearance which may not look pleasing to the eye. As stated above, as the child grows this discrepancy in length tends to get shorter and shorter with time as the child grows until it is barely visible. This unusual growth pattern is also termed as hemihyperplasia.

The symptoms of Beckwith-Wiedemann Syndrome are variable and differ from individual to individual. In some cases of Beckwith-Wiedemann Syndrome, the child is born with an open abdominal wall which causes the internal organs to protrude outside from the opening or the belly button. Umbilical hernia is also one of the common symptoms of Beckwith-Wiedemann Syndrome. An enlarged tongue is also a symptom of Beckwith-Wiedemann Syndrome.

Children with Beckwith-Wiedemann Syndrome are at increased risk for developing various benign or malignant tumors and hence should be screened and monitored closely for presence of any such tumors at an early stage. Kidney cancer is one of the most common forms of cancer that an individual with Beckwith-Wiedemann Syndrome is at risk of. These tumors normally develop during childhood. Children with Beckwith-Wiedemann Syndrome in majority of cases do not have any other problem with the condition itself and lead a normal healthy life.

How common is Beckwith-Wiedemann syndrome?

Beckwith-Wiedemann syndrome is not common. Please discuss with your doctor for further information.

Symptoms

What are the symptoms of Beckwith-Wiedemann syndrome?

Some of the symptoms of Beckwith-Wiedemann Syndrome are:

  • Abnormally large size than the norm in a newborn infant is a symptom of Beckwith-Wiedemann Syndrome
  • A red birth mark on forehead or eyelids
  • Creases in ear lobes
  • A abnormally large tongue is also a symptom of Beckwith-Wiedemann Syndrome
  • Hypoglycemia at the time of birth
  • An abdominal wall defect in the form of an umbilical hernia or others
  • Abnormal enlargement of some organs or parts of the body
  • Abnormal growth on one side of the body relative to the other is also another symptom of Beckwith-Wiedemann Syndrome
  • Growth of a tumor.

There may be some symptoms not listed above. If you have any concerns about a symptom, please consult your doctor.

When should I see my doctor?

If you or your loved one has any signs or symptoms listed above or has any questions, please consult with your doctor. Everyone’s body acts differently. It is always best to discuss with your doctor what is best for your situation.

Causes

What causes Beckwith-Wiedemann syndrome?

In approximately 85 percent of cases, BWS results from genetic changes that appear to occur randomly (sporadically). Approximately 10-15 percent of cases of this syndrome run in families and show autosomal dominant inheritance. Researchers have determined that BWS results from various abnormalities affecting the proper expression or structure of certain genes within a specific region of chromosome 11

Risk factors

What increases my risk for Beckwith-Wiedemann syndrome?

Please consult with your doctor for further information.

Diagnosis & treatment

The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.

How is Beckwith-Wiedemann syndrome diagnosed?

Beckwith-Wiedemann Syndrome can be diagnosed just by looking at the size of the child which will be abnormally long than what is the norm, which means that Beckwith-Wiedemann Syndrome is suspected in children who are much taller than their peers of their age, have asymmetry in body parts left relative to the right, the child has an enlarged tongue, and the organs of the abdomen are protruding through the belly button. All these above mentioned features clearly point to Beckwith-Wiedemann Syndrome and no other investigations are required. A detailed physical examination by the doctor is good enough to confirm the diagnosis of Beckwith-Wiedemann Syndrome.

Additionally, the doctor may also order some tests to confirm the diagnosis like:

  • Blood test to check sugar levels to see if they are low
  • Genetic studies to include study of chromosome 11 to look for any abnormalities in them
  • Ultrasound of the abdomen to look for any abnormalities like an opening in the abdominal wall which will also confirm the diagnosis of Beckwith-Wiedemann Syndrome.

How is Beckwith-Wiedemann syndrome treated?

As stated, in majority of cases the overgrowth caused by Beckwith-Wiedemann Syndrome starts to slow down with time and by the time the infant goes into childhood especially by the age of 8 or 9 years the abnormality of height and other discrepancies are almost gone. However, other abnormalities like hypoglycemia and others may need treatment. Low blood sugar is treated with intravenous fluids. In some cases, medications may be required to control the blood sugars and bring them back to normal.

For defects in the abdominal wall in which the organs protrude through the belly button, this may need to be repaired surgically. Surgery may also be needed for correction of an enlarged tongue which may make it difficult for the child to breathe or eat. Children with overgrowth on one side of the body giving them an asymmetric appearance needs close monitoring to see if the discrepancy goes away on its own with time. The child should also be closely monitored with scans and radiographic studies, especially of the abdominal areas to see for any signs of tumor growth so that it can be caught early and necessary treatments are implemented for treating them

Lifestyle changes & home remedies

What are some lifestyle changes or home remedies that can help me manage Beckwith-Wiedemann syndrome?

Majority of children lead a normal life despite having Beckwith-Wiedemann Syndrome, although they may need periodic followups and close monitoring for some time to look for development of any abnormal tumors or recurrence of hernias. Apart from this, a child has absolutely no problems leading a normal life due to Beckwith-Wiedemann Syndrome.

If you have any questions, please consult with your doctor to better understand the best solution for you.

Hello Health Group does not provide medical advice, diagnosis or treatment.

Sources

Review Date: January 25, 2018 | Last Modified: January 25, 2018

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