Beckwith-Wiedemann syndrome

Definition

Beckwith-Wiedemann syndrome is a consistent grouping of findings of unknown etiology (cause) and characterized by a large tongue (macroglossia), large organs (visceromegaly) and large body size (macrosomia), umbilical hernia or omphalocele (hernia of the navel), and low blood sugar in the newborn (neonatal hypoglycemia).

Causes, incidence, and risk factors

The cause of Beckwith-Wiedemann syndrome is unknown, but it appears to be genetic. Some cases may be associated with a defect in chromosome number 11.

Affected children are often large at birth. Many have an abdominal wall defect, such as an umbilical hernia or omphalocele. They have a characteristic facial appearance with a gaping mouth and large tongue.

Infancy can be a critical period because of low blood sugar (hypoglycemia), omphalocele (when present), and an increased rate of tumor development (Wilm's tumor and adrenal carcinoma being most common).

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
  
• 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
  

Signs and tests

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 anterior fontanelle)
  
• Early bone maturation
  
• Accelerated growth (in the 90th 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