Beckwith-Wiedemann syndrome (patient information): Difference between revisions
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==Diagnosis== | ==Diagnosis== | ||
* Blood tests for [[low blood sugar]] and other abnormalities | * Blood tests for [[low blood sugar]] and other abnormalities | ||
* Chromosomal studies for abnormalities in chromosome 11 | * [[Chromosomal studies]] for abnormalities in chromosome 11 | ||
* [[MRI]] or [[CT scan]] of the abdomen | * [[MRI]] or [[CT scan]] of the abdomen | ||
* [[Ultrasound]] of the abdomen | * [[Ultrasound]] of the abdomen | ||
Revision as of 21:35, 30 July 2012
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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 blood 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