Beckwith-Wiedemann syndrome

Disease	Injury	Nutrition	Poison

Special Topic	Surgery	Symptoms	Test

Beckwith-Wiedemann syndrome

Symptoms:

Large newborn (LGA, large for gestational age)
Large tongue, sometimes protruding
Large prominent eyes
Creases in ear lobes
Pinna abnormalities and low set ears
Abdominal wall defect: umbilical hernia or omphalocele
Separated abdominal muscles (diastasis recti)
Undescended testicles (cryptorchidism)
Low blood sugar (hypoglycemia)
Poor feeding
Lethargy
Seizures
Enlargement of some organs and tissues

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 abdomen
MRI scan of the abdomen or CT scan of the abdomen
Chromosome studies (for abnormalities in the chromosome 11)

Review Date: 12/30/2002
Reviewed By: A.D.A.M. editorial. Previous review: Adam Ratner, M.D., Children's Hospital of Philadelphia, Philadelphia, PA. Review provided by VeriMed Healthcare Network (2/1/2002).

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