By Cristina Mestre Ferrer BSc, MSc (embryologist).
Last Update: 11/03/2014

Beckwith-Wiedemann syndrome is a congenital disease provoked by genetic or epigenetic causes related with a disorder in a region of the chromosome 11. People that suffer from it are born with it.

Origin BWS

The name Beckwith-Wiedemann syndrome (BWS) is due to the fact that both authors (Beckwith and Wiedemann) described the syndrome at the exact same time. This illness provokes an increase of the physical growth during the first stage of life. However, most people that have to endure it don’t show an abnormal intellectual or physical development. Patients with this illness must be monitored during the first years of life, since it’s associated with a high risk of embryonic tumours.

Symptoms

They are quite different and there’s no fixed symptoms pattern. However, the most frequent are:

  • High weight at the moment of birth, macrosomia.
  • Enlargement of the internal organs, visceromegaly.
  • Disorders in the abdomen, umbilical hernia or omphalocele.
  • Disorders in the outer ear and creases in the hearing lobule.
  • Enlargement of the eyes.
  • Enlargement of the tongue (macroglossia), which bulges forward in some occasions.
  • Hypoglycaemia, low blood sugar levels.
  • Convulsions and muscle spasms.
  • Cryptorchidism, which happens when one of the testicles doesn’t descend.

Diagnosis Beckwith-Wiedemann syndrome BWS

Diagnosis

There’s no agreement as to which criteria’s application in order to carry out de diagnosis of the syndrome. The doctors tend to base the diagnosis in the presence of the following symptoms: enlargement of the tongue (macroglossia), large physical size at the moment of birth (macrosomia), creases in the hearing lobule or pits in the ears, and disorders in the abdomen with umbilical hernia.

Babies diagnosed with WBS that survive the breastfeeding period count on good odds, but there’s still much information missing about the evolution of the disease.

Treatment

Babies that present low sugar levels are treated intravenously. Furthermore, during the first years of life it’s vital to monitor them, in order to avoid the development of tumours. The early cancer diagnosis increases the survival chances of these patients.

Those children with BWS and kidney disorders or hemihypertrophy have 4 times more possibilities of developing a tumour. It’s usually at the age of 2 when the babies with BWS develop a tumour.

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Authors and contributors

 Cristina Mestre Ferrer
BSc, MSc
Embryologist
Bachelor's Degree in Biological Sciences, Genetics & Human Reproduction from the University of Valencia (UV). Master's Degree in Biotechnology of Human Assisted Reproduction from the UV and the Valencian Infertility Institute (IVI). Embryologist at IVI Barcelona. More information
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