Beckwith-Wiedemann Syndrome

Question 1

What is Beckwith-Wiedemann Syndrome?

Answer 1

Beckwith-Wiedemann Syndrome is an overgrowth syndrome. It is an imprinting disorder affecting 11p15, which regulates growth.

Reference: The Science of Paediatrics [1st Edition], p. 155.

Question 2

How does Beckwith-Wiedemann Syndrome present?

Answer 2

Overgrowth

In utero and post-natally

Hypoglycaemia

Coarse Facial Features

Macroglossia

May affect breathing, swallowing, and speaking.

Exomphalos

Umbilical Hernia

Hemihypertrophy

This can lead to scoliosis.

Earlobe Creases

Posterior Helical Pits

Reference: The Science of Paediatrics [1st Edition], p. 155; Genetics Home Reference, Medline.

Question 3

How common is Beckwith-Wiedemann Syndrome?

Answer 3

Beckwith-Wiedemann Syndrome affects about 1 in 13700 live births worldwide.

Reference: Genetics Home Reference

Question 4

How is Beckwith-Wiedemann Syndrome diagnosed and investigated?

Answer 4

Diagnosis

Molecular genetic testing

11p FISH

Methylation studies (

Investigations

Echocardiogram

Tumour surveillance

Reference: The Science of Paediatrics [1st Edition], p. 155.

Question 5

What conditions are associated with Beckwith-Wiedemann Syndrome?

Answer 5

Embryonal tumours

e.g. Wilm’s Tumour, Hepatoblastoma

Reference: The Science of Paediatrics [1st Edition], p. 155; Genetics Home Reference.

Question 6

What is life expectancy in Beckwith-Wiedemann Syndrome?

Answer 6

Usually normal.

Reference: Genetics Home Reference

Question 7

How is Beckwith-Wiedemann Syndrome managed?

Answer 7

Treat the issues arising, for example:

Medical

Neonatal monitoring and correction of blood glucose

Surgical

Correction of exomphalos and macroglossia