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Doctors who treat BECKWITH-WIEDEMANN SYNDROME or similar ailments belong to following departments:
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Paediatrics - Medicine;COSMETIC, PLASTIC AND RECONSTRUCTIVE SURGERY;AUDIOLOGY/SPEECH THERAPY

Paediatrics - Medicine , COSMETIC, PLASTIC AND RECONSTRUCTIVE SURGERY , AUDIOLOGY/SPEECH THERAPY



Also known as Overgrowth Syndrome or Exomphalos-Macroglossia-Gigantism Syndrome

ABOUT THE DISEASE

This is a congenital growth disorder, affecting many parts of body. Specific part of body may grow abnormally large leading to asymmetric appearances; this unusual pattern is known as hemihyperplasia. The infants are mostly larger and taller than their peers during childhood.

Beckwith_Wiedemann_syndrome

SYMPTOMS

  • • opening in the wall of abdomen (omphalocele/umbilical hernia)
  • • Abnormally large tongue (macroglossia)
  • • Abnormally large abdominal organs (visceromegaly)
  • • External ear abnormality/low set ears
  • • Low blood sugar (hypoglycemia) in infancy
  • • Cryptorchidism
  • • Lethargy

These children have increased risk of developing tumors like Wilm`s tumor, Adrenal carcinoma, Hepatoblastoma, etc.

CAUSES

The cause of this disease is abnormal regulation of genes in a particular region of chromosome 11.

DIAGNOSIS

- Clinical evaluation
- MRI/CT scan of abdomen
- Molecular/cytogenetic testing

TREATMENT METHODS

To reduce the risk of central nervous system complications, hypoglycemia should be treated. Abdominal wall repair for omphalocele may be done. Surgery may be performed during early puberty to equalize differences in leg lengths. Individuals with facial hemihyperplasia may go for craniofacial surgery.


You may also like to learn about:

Hypoglycemia
Hernia
Cryptorchidism
Wilms tumor
Delayed milestone
Hepatomegaly


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