Beckwith-Wiedemann syndrome (patient information)

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Assistant-Editor-In-Chief: Kalsang Dolma, M.B.B.S.[2]

Overview

Beckwith-Wiedemann syndrome is a congenital (present from birth) growth disorder that causes large body size, large organs, and other symptoms.

What are the symptoms of Beckwith-Wiedemann syndrome?

• 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
• Lethargy
• Low blood sugar (hypoglycemia)
• Mild microcephaly
• Poor feeding
• Separated abdominal muscles (diastasis recti)
• Seizures
• Undescended testicles (cryptorchidism)

What are the 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.

Diagnosis

• 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

When to seek urgent medical care?

If you have a child with Beckwith-Wiedemann syndrome and worrisome symptoms develop, call your pediatrician immediately.

Treatment options

• 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.

Where to find medical care for Beckwith-Wiedemann syndrome?

Directions to Hospitals Treating Beckwith-Wiedemann syndrome

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.

What to expect (Outlook/Prognosis)?

• 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.

Possible complications

• Development of tumors
• Feeding problems
• Hypoglycemia
• Respiratory difficulties from obstruction due to large tongue
• Seizures

Sources

• http://www.nlm.nih.gov/medlineplus/ency/article/001186.htm