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Beckwith-Wiedemann 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)

    Signs and tests

    The signs of Beckwith-Wiedemann syndrome include:

    • 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)

    Tests for Beckwith-Wiedemann syndrome include:

    • 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