Beckwith Wiedemann Syndrome

Beckwith–Wiedemann syndrome is an overgrowth disorder usually present at birth, characterized by an increased risk of childhood cancer and certain congenital features

Other names of Beckwith Wiedemann Syndrome

  • Beckwith-Syndrome

  • Beckwith-Wiedemann spectrum

  • BWS

  • EMG syndrome

Causes of Beckwith Wiedemann Syndrome

  • BWS can be caused by a range of different genetic defects. Over five distinct errors involving 11p15.5 have been identified in different BWS patients.

  • Some patients have maternal chromosomal rearrangements of 11p15.5.

  • Other patients have paternal uniparental disomy (UPD) of chromosome 11, meaning that the maternal copy of this chromosome is replaced with an extra paternal copy.

  • Many other patients have abnormal DNA methylation in different areas of 11p15.5, meaning that normal epigenetic marks that regulate imprinted genes in this region are altered.

  • A few other patients have a single gene copy located within 11p15, instead of two copies.

Symptoms of Beckwith Wiedemann Syndrome

  • Macrosomia (traditionally defined as weight and length/height >97th centile)

  • Macroglossia

  • Hemihyperplasia (asymmetric overgrowth of one or more regions of the body)

  • Omphalocele (also called exomphalos) or umbilical hernia

  • Embryonal tumor (e.g., Wilms tumor, hepatoblastoma, neuroblastoma, rhabdomyosarcoma) in childhood

  • Visceromegaly involving one or more intra-abdominal organs including liver, spleen, kidneys, adrenal glands, and/or pancreas

  • Cytomegaly of the fetal adrenal cortex (pathognomonic)

  • Renal abnormalities including structural abnormalities, nephromegaly, nephrocalcinosis, and/or later development of medullary sponge kidney

  • Anterior linear ear lobe creases and/or posterior helical ear pits

  • Placental mesenchymal dysplasia

  • Cleft palate (rare in BWS)

  • Cardiomyopathy (rare in BWS)

Diagnosis of Beckwith Wiedemann Syndrome

  • The diagnosis of BWS is clinical, meaning that it is based primarily on physical signs.

  • BWS is suspected in children who are larger than expected for their age, especially if growth is not symmetrical, meaning the same on both sides.

  • An enlarged tongue and abdominal wall defect, primarily omphalocele, are also considered to be common features.

  • There are many other features that may be seen in some children with BWS.

  • However, not every child with BWS will have every feature. Features are listed as major (common) or minor (less common).

  • Genetic testing for gene mutations associated with BWS is available, but it is complex.

  • It is recommended that all families considering genetic testing for BWS meet with a clinical geneticist, a medical doctor who has training in genetics, and a genetic counselor that can explain the tests and coordinate testing.

  • Baseline magnetic resonance imaging (MRI) or computed tomography (CT or CAT) scan of the abdomen at the time of diagnosis

  • Abdominal ultrasound to screen for hepatoblastoma and Wilms tumor every 3 months, until age 4.

  • After age 4, imaging may be limited to just a kidney ultrasound until age 8

Treatment of Beckwith Wiedemann Syndrome

Healthcare providers can treat most BWS symptoms. For example:

  • Stomach wall surgery to treat omphalocele or umbilical hernias.

  • Medication can treat hypoglycemia.

  • Tongue reduction surgery to treat macroglossia (large tongue).

  • Orthotics to reduce the appearance of differences in the length of your child’s legs. Or other methods to treat any leg-length differences.

diseases treatments syndromes disorders beckwith-wiedemann-syndrome bws health

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