Beckwith-Wiedemann syndrome is a congenital (present from birth) growth disorder that causes large body size, large organs, and other symptoms.
Causes of Beckwith-Wiedemann syndrome
The cause of Beckwith-Wiedemann syndrome is unknown, but it may be genetic. Most 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. Wilm's tumor and adrenal carcinoma are the most common tumors in patients with this syndrome.
Beckwith-Wiedemann syndrome Symptoms
- 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 for gestational age)
- Large, prominent eyes
- Large tongue, sometimes protruding
- Low blood sugar (hypoglycemia)
- Mild microcephaly
- Poor feeding
- Separated abdominal muscles (diastasis recti)
- Undescended testicles (cryptorchidism)
Tests and Exams
The signs of Beckwith-Wiedemann syndrome include:
- A ridge in the forehead caused by premature closure of the bones (metopic ridge)
- Enlarged fontanelle (soft spot)
- Enlarged kidneys, liver, and spleen
- Large size (90th percentile)
- Low blood sugar (hypoglycemia)
Tests for Beckwith-Wiedemann syndrome include:
- Blood tests for low sugar and other abnormalities
- Chromosomal studies for abnormalities in chromosome 11
- MRI or CT scan of the abdomen
- Ultrasound of the abdomen
- X-ray of the abdomen
- X-ray of the long bones
Treatment of Beckwith-Wiedemann syndrome
Infants with low blood sugar may be treated fluids given through a vein (intravenous solutions).
Defects in the abdominal wall may need to be repaired. The child must be watched closely for the development of tumors.
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.
- Development of tumors
- Feeding problems
- Respiratory difficulties from obstruction due to large tongue
When to Contact a Health Professional
If you have a child with Beckwith-Wiedemann syndrome and worrisome symptoms develop, call your pediatrician immediately.
Prevention of Beckwith-Wiedemann syndrome
There is no known prevention for Beckwith-Wiedemann syndrome. Genetic counseling may be of value for families who would like to have additional children.
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: Saunders Elsevier; 2011:chap 554.
|Review Date: 5/10/2013
Reviewed By: Neil K. Kaneshiro, MD, MHA, Clinical Assistant Professor of Pediatrics, University of Washington School of Medicine. Also reviewed by A.D.A.M. Health Solutions, Ebix, Inc., Editorial Team: David Zieve, MD, MHA, Bethanne Black, Stephanie Slon, and Nissi Wang.
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