Beckwith-Wiedemann syndrome


Beckwith-Wiedemann syndrome is a congenital growth disorder that causes large body size, large organs, and other symptoms.

Causes, incidence, and risk factors:

  • The cause of Beckwith-Wiedemann syndrome is unknown, but it may be genetic.
  • Most cases are associated with a defect in chromosome number 11.
  • Infancy can be a critical period because of low blood sugar ( hypoglycemia ), omphalocele , and an increased rate of tumorogenesis.
  • Wilm’s tumor and adrenal carcinoma are the most common tumor’s in patients with this syndrome.

Symptoms :

  • Abdominal wall defect: umbilical hernia or omphalocele
  • Creases in ear lobes-Enlargement of some organs and tissues
  • External ear (pinna) abnormalities and low-set ears
  • Large size for a newborn (large for gestational age)
  • Large, prominent eyes
  • Large tongue, sometimes protruding
  • Lethargy
  • Low blood sugar (hypoglycemia)
  • Mild microcephaly
  • Poor feeding
  • Separated abdominal muscles (diastasis recti)
  • Seizures-Undescended testicles (cryptorchidism)


  • A ridge in the forehead caused by premature closure of the bones (metopic ridge)
  • Enlarged fontanelle (soft spot)
  • Enlarged kidneys, liver, and spleen
  • Large size (90th percentile)
  • Low blood sugar (hypoglycemia)


  • Blood tests for low sugar and other abnormalities
  • Chromosomal studies for abnormalities in chromosome 11
  • MRI or CT scan of the abdomen
  • Ultrasound of the abdomen
  • X-ray of the abdomen-X-ray of the long bones

Complications -

  • Development of tumors
  • Feeding problems
  • Hypoglycemia
  • Respiratory difficulties from obstruction due to large tongue
  • Seizures