What is Bohring-Opitz syndrome?

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

How is BOS diagnosed?

The diagnosis is made clinically by experts who have experience with these types of syndromes. The diagnosis is confirmed by detection of a mutation in ASXL1. Since there are BOS patients without an ASXL1 mutation, alternative disease mechanisms are also assumed to exist (e.g. mutations in the KLHL7 gene).

What is the risk of cancer?

BOS is so rare that the information about it is unreliable. Since mainly children with BOS and kidney tumors have been described, it is assumed that the risk of kidney tumors (Wilms tumors) is increased in children who have BOS.

What causes BOS?

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

Is there a treatment?

Medical care of children requires an expert, multi-professional team to work together closely with the affected family.

Surveillance Recommendations for the Early Detection of Cancer

Surveillance Recommendations

The risk of kidney tumors is by no means one of the main problems that children with BOS face. Nevertheless, it is a good idea to have the kidneys examined using ultrasound every three months until the age of 7.

Self-Care and Support

What should I pay special attention to?

It is also helpful to talk with others who are affected. Any new symptom that occurs should be evaluated by the treatment team.

Support Groups and Additional Information