What is the Beckwith-Wiedemann syndrome spectrum?
The Beckwith-Wiedemann syndrome spectrum (BWSp) is a hereditary disease characterised by variable abnormalities such as a large tongue, a large body, asymmetric growth, low blood sugar levels after birth and an increased risk of cancer in childhood, especially for kidney tumors, liver tumors and others.
How is the BWSp diagnosed?
The diagnosis is made clinically by an expert experienced in syndromes. A point system is used. At ≥ 4 points is clinically a classical BWS available, at ≥ 2 points should be genetic diagnostics.
Main Criteria (2 points per symptom)
Secondary Criteria (1 point per symptom)
The diagnosis can be confirmed by means of a genetic analysis, whereby at ≥ 4 points are also confirmed without genetic proof of the diagnosis.
What is the risk of cancer?
The risk of cancer depends on the genetic subtype:
What causes BWSp?
BWSp is caused by a change in the genetic material on chromosome 11. In most cases there are molecular (so-called epigenetic) changes that lead to a stronger or weaker reading of genes without the information stored there being changed itself.
Is there a treatment?
Body Growth and Lateralised Large Growth
Abdominal Wall Defects
Surveillance Recommendations for the Early Detection of Cancer
Self-Care and Support
What should I pay special attention to?
It makes sense to exchange ideas with other affected people. Every new symptom should be clarified by your treatment team.