The diagnosis is made clinically by experts who are experienced with syndromes and confirmed by detection of a mutation in the GPC3 or GPC4 gene.
What is the risk of cancer?
It is estimated that 8% of children develop a kidney tumor (Wilms tumor). This is just a rough estimate, however. There is even less knowledge concerning the risk of other tumors.
What causes Simpson-Golabi-Behmel syndrome?
Simpson-Golabi-Behmel syndrome is caused by a mutation – or genetic change – in the GPC3 or GPC4 gene. Both genes are found on the X-chromosome. These genes control significant biological processes that are also important during mental and physical development. There are patients with SGBS in whom no mutations are found. This may be explained by the presence of a yet unidentified diseased gene.
Is there a treatment?
Medical care for children requires an expert, multi-professional team to work together closely with the affected family.
Surveillance Recommendations for the Early Detection of Cancer
Surveillance recommendation for the early detection of a Wilms tumor with an ultrasound of the kidneys every 3 months until the age of 7
Surveillance recommendation for the early detection of a hepatoblastoma with AFP and an ultrasound of the kidneys every 3 months until the age of 4
Self-Care and Support
What should I pay special attention to?
Any new symptom that occurs should be evaluated by the treatment team.
Support Groups and Additional Information
Unfortunately, we are as yet unaware of any existing support groups for patients with Simpson-Golabi-Behmel syndrome. We will add new information as it becomes available.