Beckwith-Wiedemann syndrome

Alternative names:

Beckwith syndrome

Symptoms:

• large newborn (LGA, large for gestational age)
• large tongue, sometimes protruding
• large prominent eyes
• creases in ear lobes
• pinna abnormalities and low set ears
• umbilical hernia (omphalocele)
• separated abdominal muscles (diastasis recti)
• undescended testicles (cryptorchidism)
• hypoglycemia
• poor feeding
• lethargy
• seizures
• polyhydramnios
• enlargement of some organs and tissues
  • prognathism

Signs and tests:

Signs:

• hypoglycemia (low blood sugar)
• nevus flammeus (forehead birthmark)
• enlarged kidneys
• large fontanelle (enlarged soft spot)
• metopic ridge (a ridge in the forehead, caused by premature closure of the cranial suture just forward of anterior fontanelle)
• early bone maturation

Tests:

• bone X-ray (of the long bones)
• CBC - polycythemia is common
• ultrasound of the kidneys and collecting system (renal ultrasound)
• IVP
• X-ray of the abdomen
• MRI scan of the abdomen or CT scan of the abdomen