Beckwith-Wiedemann syndrome

Alternative names:

Beckwith syndrome

Definition:

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. Evidence shows increased occurrences within a family, but a definite genetic inheritance has not been determined. Infants with low blood sugar (hypoglycemia) may have a defect in chromosome 11.

Affected children are large and at birth may have weighed more than 8 pounds. They have a characteristic facial appearance with a gaping mouth and large tongue. They may also have creases in their earlobes.

Infancy is a critical period because of severe hypoglycemia, omphalocele, and increased tumor development (Wilm's tumor, adrenal carcinoma, and gonadoblastoma being most common). Children who survive infancy appear to be healthy, but long-term follow-up is unavailable.