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.

I would like to edit or add detail to this database entry

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


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?


How many are affected?

It is estimated 1:15000

Support groups and organisations

Bob and Gill Baker
Tel Tel: 01258 817573
Great Ormond Street

Known experts

Dr Beckwith
Field of interestBWS
I would like to edit or add detail to this database entry

Please let us know more about you

In order to allow you to edit this form, please fill in the fields below and click submit to proceed to to the editing page.

used only if we have questions about your entry.

Share this page

Welcome to the GDUK network

If this is the first time you have searched for information on a particular condition, details you find here may be distressing.

» If you would rather read our Newly Diagnosed section for parents and carers first click here