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Beckwith-Wiedemann syndrome

Beckwith-Wiedemann syndrome is a growth disorder that causes large body size, large organs, and other symptoms. It is a congenital condition, which means it is present at birth.

Causes

The cause of Beckwith-Wiedemann syndrome is unknown, but it may be genetic (passed down through families). Most cases are associated with a defect in chromosome number 11.

Infancy can be a critical period in babies with this condition because of the possibility of low blood sugar, a type of hernia called an omphalocele (when present), and an increased rate of tumor growth. Wilm's tumor and adrenal carcinoma are the most common tumors in people with this syndrome.

Symptoms

Symptoms of Beckwith-Wiedemann syndrome are:

  • 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, prominent eyes
  • Large tongue, sometimes protruding
  • Lethargy
  • Low blood sugar
  • Smaller than normal head
  • Poor feeding
  • Separated abdominal muscles
  • Seizures
  • Undescended testicles

Exams and Tests

The signs of Beckwith-Wiedemann syndrome include:

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

Tests for Beckwith-Wiedemann syndrome include:

Treatment

Infants with low blood sugar may be treated with fluids given through a vein (intravenous, IV).

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

Outlook (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. Swelling of the tongue can cause problems with feeding and sleeping.

Possible Complications

These complications can occur:

  • Development of tumors
  • Feeding problems
  • Low blood sugar
  • Breathing difficulties from blockage due to large tongue
  • Seizures

When to Contact a Medical Professional

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

Prevention

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

References

Cohen P, Hosono H. Hyperpituitarism, tall stature, and overgrowth syndromes. In: Kliegman, RM, Behrman RE, St. Geme III JW, Schor NF, Stanton BF, eds. Nelson Textbook of Pediatrics. 19th ed. Philadelphia, PA: Elsevier Saunders; 2011:chap 554.

Galerneau F. Beckwith-Wiedemann syndrome. In: Copel JA, D'Alton ME, Gratacós E, et al, eds. Obstetric Imaging. Philadelphia, PA: Elsevier Saunders; 2012:chap 111.

Update Date 4/21/2015

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