Beckwith-Wiedemann syndrome
Information, Symptoms, Treatments and Resources
Beckwith-Wiedemann syndrome is a congenital (present from birth) growth disorder that causes large body size, large organs, and other problems.
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.
- 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 newborn (LGA, large for gestational age)
- Large, prominent eyes
- Large tongue, sometimes protruding
- Lethargy
- Low blood sugar (hypoglycemia)
- Mild microcephaly
- Poor feeding
- Separated abdominal muscles (diastasis recti)
- Seizures
- Undescended testicles (cryptorchidism)
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
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.
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.
If you have a child with Beckwith-Wiedemann syndrome and worrisome symptoms develop, call your pediatrician immediately.
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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