Beckwith Wiedemann Syndrome

Also known as

  • BWS

BWS is an overgrowth disorder prevalent at birth, with different symptoms, all or some may be present. They include: large tongue (macroglossia), large abdominal organs, larger in general (e.g. for gestational age), umbilical hernia, port/wine stain, hypoglygaemia, hyperinsulinism, asymmetry (hemihypertrophy), ear pits.

Condition details

Although this condition generally gets better with time, the most pressing concern for most parents is the increased risk of Wilms tumour (on the kidney). Regular screening every 3 months is therefore required. Hyperinsulinism is often manageable with medication. Tongue reduction may be required and may be physio/speech and language therapy for other symptoms.

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Photos of affected individuals

Click images to enlarge.

  • Baby imageBaby
  • No toddler imageToddler
  • No child 4-10 imageChild 4-10
  • No child 10-18 imageChild 10-18
  • No adult imageAdult

Typical age range of first manifestation

  • Can manifest in Baby
  • Does not manifest in Toddler
  • Does not manifest in Child 4-10
  • Does not manifest in Child 10-18
  • Does not manifest in Adult

Symptoms

Baby
Lay terms Clinical terms
  • Large tongue Asymmetrical Low blood sugar Umbilical hernia Ear pits Large for age Kidney tumour Enlarged abdominal organs
  • Macroglossia Hemihypertrophy Hypoglycaemic/hyperinslulinism Macrosomia Wilms tumour Visceromegaly

Affected genes identified to date

  • Chromosome 11: CDKN1C IGF2 KvDMR1 H19 DMR

Inheritance patterns

Is X-linked

Are carriers affected?

Possibly

How many are affected?

It is estimated 1:15000

Support groups and organisations

Bob and Gill Baker
bws-support.org.uk
Tel Tel: 01258 817573
Facebook
Great Ormond Street
Tel
Facebook

Known experts

Dr Beckwith
Field of interestBWS
Tel
Facebook
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