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).
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 90 th 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 Ultrasound of the abdomen X-ray of the abdomenMRI scan of the abdomen or CT scan of the abdomen
Chromosome studies (for abnormalities in the chromosome 11)
Treatment
In infancy, hypoglycemia may be treated with intravenous solutions. Enlargement of the tongue can cause problems with feeding and sleeping. Defects of the abdominal wall may need to be repaired. In addition, affected children must be followed carefully for the appearance of tumors.
Support groups
A support group for this syndrome can be found at -- http://www.beckwith-wiedemann.org .
Expectations (prognosis)
Children who survive infancy do well, although there is no long term follow-up available. Mental function appears to be normal to very slightly decreased.
Calling your health care provider
If you have a child with Beckwith-Wiedemann syndrome at home, any worrisome symptoms develop, call your health care provider immediately.
Prevention
There is no known prevention at this time. Genetic counseling may be of value for families.