Definition

Beckwith-Wiedemann syndrome is a congenital (present from birth) growth disorder that causes large body size, large organs, and other problems.

Causes, incidence, and risk factors

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

Infancy can be a critical period because of low blood sugar (hypoglycemia), omphalocele (when present), and an increased rate of tumor development, with 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
• External ear (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 of Beckwith-Wiedemann syndrome include:

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

Tests for Beckwith-Wiedemann syndrome include:

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

Treatment

In infancy, hypoglycemia may be treated with intravenous solutions. Enlargement of the tongue can cause problems with feeding and sleeping.

Defects in the abdominal wall may need to be repaired. The children must be watched closely for the development of tumors.

Expectations (prognosis)

Children with Beckwith-Wiedemann syndrome who survive infancy do well, although no long-term follow-up information is available. Mental development appears to be normal to very slightly decreased.

Complications

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

Calling your health care provider

If you have a child with Beckwith-Wiedemann syndrome and worrisome symptoms develop, call your pediatrician immediately.

Prevention

There is no known prevention for Beckwith-Wiedemann syndrome. Genetic counseling may be of value for families who would like to have additional children.

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