For Parents
What a genetic finding can mean for your child and your family – explained clearly.
Many craniofacial conditions are linked to changes in the genetic material (mutations) – for example in the so-called FGFR genes. A mutation is a change in the body's “blueprint”; it often arises anew and is not the parents' fault. What a specific finding means for your child, for siblings and for family planning is best clarified in genetic counselling.
Our genes are like a blueprint. A “mutation” is a change at one point in this plan. Some of these changes affect how the skull and face develop. A mutation is not the parents' fault and cannot be caused by upbringing or prevented.
In some children the change arises anew (a de-novo mutation) and was not present in the parents. In other families a predisposition can be passed on. Which situation applies is often only shown by a targeted genetic test.
Several craniofacial syndromes involve the FGFR genes (fibroblast growth factor receptors) – for example Apert, Crouzon, Pfeiffer and Muenke syndrome. Other genes such as TWIST1 (Saethre-Chotzen syndrome) or TCOF1 (Treacher Collins syndrome) are also known. The name of the gene, however, says little about the specific course in your child – this varies greatly from case to case.
Whether and with what probability a change is passed on depends on the gene concerned and the family situation. Some forms follow a pattern in which an affected parent passes on the predisposition with a certain probability; with de-novo mutations the recurrence risk for further children is often low, but not always zero. Concrete figures can only be given individually in genetic counselling.
General information from the internet does not replace personal genetic counselling. Only a specialist can interpret your specific finding.
In genetic counselling, specialists take time to explain your finding, answer your questions and – if you wish – discuss testing options. The counselling is open-ended: you decide what suits your family. Your care team can coordinate the referral.
That certain genes (e.g. FGFR genes) are associated with craniofacial syndromes and that genetic counselling supports families is well documented.
The same genetic finding can be expressed very differently in different children. The course cannot be reliably predicted from the gene alone.
Genetics is developing quickly; new findings and testing options are continually being added.
We advise parents and professionals – confidentially and in your language.
Get in touchA mutation is a change in the genetic “blueprint”. Some such changes affect the development of the skull and face. It is not the parents' fault. What the finding means specifically for your child is best clarified by genetic counselling.
Both are possible. Often the change arises anew (de-novo mutation) and was not present in the parents; in other families a predisposition can be passed on. A targeted genetic test can clarify this.
This depends on the gene concerned and the family situation and cannot be stated in general terms. With de-novo mutations the recurrence risk is often low, but not always zero. Genetic counselling gives concrete figures individually.
Specialists explain your finding, answer questions and – if you wish – discuss testing options. The counselling is open-ended; you decide what suits your family.