"Bohring-Opitz Syndrome" – What Is It?

Bohring-Opitz syndrome (BOS) is a severe genetic disorder. It is associated with mental retardation, recognizable facial features, and various malformations. Many of those affected die in childhood.

Overview of the Chapters on This Page:

  • Bohring-Opitz Syndrome – What Is It? (This Section)
  • How Is "Bohring-Opitz Syndrome" Diagnosed?
  • What Is the Risk of Cancer?
  • What Is Known About the Development of "Bohring-Opitz Syndrome"
  • Is There Any Treatment Available?
  • Medical Measures for Early Detection
  • Bohring-Opitz Syndrome – What You Can Do Yourself
  • Links and Further Information (e.g., From Support Groups)
  • Bohring-Opitz Syndrome – What Is It? (This Section)
  • How Is "Bohring-Opitz Syndrome" Diagnosed?
  • What Is the Risk of Cancer?
  • What Is Known About the Development of "Bohring-Opitz Syndrome"?
  • Is There Any Form of Treatment Available?
  • Medical Measures for Early Detection
  • Bohring-Opitz Syndrome – What You Can Do Yourself
  • Links (e.g., From Support Groups) and Further Information

How Is "Bohring-Opitz Syndrome" Diagnosed?

The diagnosis is made clinically by an expert experienced in syndromes. The detection of an ASXL1 mutation confirms the diagnosis. Since there are individuals with BOS without an ASXL1 mutation, other causes are suspected (e.g., mutations in the KLHL7 gene).

What Is the Risk of Cancer?

BOS is so rare that there are no reliable data. In particular, children with BOS and kidney tumors have been described. It is, therefore, assumed that the risk of kidney tumors (Wilms tumors) is increased in children with BOS.

What Is Known About the Development of "Bohring-Opitz Syndrome "?

BOS is caused by a mutation, i.e. a genetic change in the ASXL1 gene. This gene controls important biological processes that are also important during mental and physical development.

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 " Bohring-Opitz 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 " Bohring-Opitz 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

The risk of kidney tumors is by far not one of the biggest problems in children with BOS. Nevertheless, it makes sense to carry out an ultrasound examination of the kidneys every three months until the age of seven.

Bohring-Opitz Syndrome- What You Can Do Yourself

You Should Pay Attention to This

It is a good idea to talk to other individuals with BOS. Your treatment team should clarify every new symptom.

Further Information

Patients can also register for the CPS register at any time or have this done by the doctors looking after them.

Any further questions?

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