"Simpson-Golabi-Behmel Syndrome" – What Is It?
Simpson-Golabi-Behmel syndrome (SGBS) is a tall stature syndrome that is associated with malformations, reduced intelligence, and an increased risk of tumors. Boys are particularly affected.
How Is "Simpson-Golabi-Behmel Syndrome" Diagnosed?
The diagnosis is made clinically by an expert with experience in syndromes. The detection of a mutation in GPC3 or GPC4 confirms the diagnosis.
What Is the Risk of Cancer?
It is estimated that 8% of children develop a kidney tumor (Wilms’ tumor). However, this is a rough estimate. For the other tumors, the risk is even less known.
What Is Known About the Development of "Simpson-Golabi-Behmel Syndrome"?
Simpsom-Golabi-Behmel syndrome is caused by a mutation, i.e., a genetic change in the GPC3 or GPC4 gene. Both genes are located on the X chromosome. These genes control important biological processes crucial during mental and physical development. There are patients with SGBS in whom no mutations are found. In this case, an as-yet-unknown disease gene may be affected.
Is There Any Form of Treatment Available?
Caring for children requires an expert multi-professional team that works closely with the family concerned.
Diagnosis of " Simpson-Golabi-Behmel Syndrome" What's Next?
If you have been diagnosed with this cancer predisposition syndrome, it is important to see a specialist. The following section explains whether cancer screening tests or other measures are needed and how they should be carried out. We also give you some valuable tips on what you can do yourself. If you have any questions, please do not hesitate to contact us or your doctor.
Diagnosis of " Simpson-Golabi-Behmel Syndrome" What's Next?
If you have been diagnosed with this cancer predisposition syndrome, it is important to see a specialist. The following section explains whether cancer screening tests or other measures are needed and how they should be carried out. We also give you some valuable tips on what you can do yourself. If you have any questions, please do not hesitate to contact us or your doctor.
Medical Measures for Early Detection
- Early detection of Wilms’ tumor with ultrasound of the kidneys every 3 months until the age of 7
- Early detection of hepatoblastoma with AFP and ultrasound of the abdomen every 3 months until the age of 4
Simpson-Golabi-Behmel Syndrome – What You Can Do Yourself
You Should Pay Attention to This
Your treatment team should clarify any new symptoms.
Further Information
Unfortunately, we are not yet aware of any support groups for patients with Simpson-Golabi-Behmel syndrome. As soon as we have new information, we will add it here. However, patients can also register for the CPS registry at any time or have this done by their doctors in charge.
Any further questions?
You can reach us by e-mail and telephone, or you can come to our consultation hours in person. For more information, please visit our contact page.
