Beckwith-Wiedemann syndrome

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Beckwith-Wiedemann syndrome Metopic ridge

Overview Symptoms Treatment Prevention

Beckwith-Wiedemann syndrome

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

The signs for Beckwith-Wiedemann syndrome are as follows:

• Hypoglycemia (low blood sugar)
• Enlarged kidneys, liver, and spleen
• Large fontanelle (enlarged soft spot)
• Metopic ridge (a ridge in the forehead, caused by premature closure of the cranial suture just forward of the anterior fontanelle)
• Early bone maturation
• Accelerated growth (in the 90^th percentile)

The tests for Beckwith-Wiedemann syndrome are as follows:

• Bone X-ray (of the long bones)
• Blood tests to test for low sugar or other abnormalities
• Ultrasound of the abdomen
• X-ray of the abdomen
• MRI scan of the abdomen or CT scan of the abdomen
• Chromosome studies (for abnormalities in the chromosome 11)

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