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Beckwith-Wiedemann Syndrome

Diagnosis, symptoms, and treatment methods.

General Information About Beckwith-Wiedemann Syndrome

Beckwith-Wiedemann Syndrome is a rare genetic overgrowth syndrome characterized by the asymmetric and excessive growth (macrosomia) of certain parts of the body or internal organs. Babies show an enlarged tongue (macroglossia), abdominal wall defects, and an increased predisposition to childhood cancers (especially Wilms tumor). In collaboration with our Pediatrics and Genetics departments, patients' organ development and cancer risks are closely monitored.

Disease Details and Frequently Asked Questions

You can find detailed information about the disease under the headings below.
What is Beckwith-Wiedemann Syndrome?

It is a genetic disorder where babies are born much larger than normal and organs grow uncontrollably as a result of the faulty regulation of growth genes on the 11th chromosome.

What Are the Symptoms?

A tongue too large to fit in the mouth, an umbilical hernia at birth (omphalocele), one half of the body being larger than the other (hemihyperplasia), and episodes of low blood sugar (hypoglycemia) during the newborn period.

Is Tongue Enlargement (Macroglossia) Dangerous?

Having a very large tongue can make it difficult for the baby to feed, swallow, and breathe. It can cause speech disorders at older ages, and surgical reduction may be required.

Is There a Cancer Risk?

Yes. Children with this syndrome have a higher risk of developing kidney (Wilms tumor) and liver (Hepatoblastoma) cancers compared to normal children.

Does It Affect Intelligence Development?

The syndrome alone does not cause intellectual disability. Their cognitive development is generally completely normal.

How is Medical Follow-up Conducted?

It is vital that children are closely monitored against the risk of cancer with detailed abdominal ultrasounds and blood AFP (tumor marker) levels every 3 months, especially during the first 8 years.

Our health library contents are prepared for informational purposes only and with scientific data available at the time of recording. For all your questions, concerns, diagnosis, or treatment regarding your health, please consult your doctor or a healthcare institution.


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