Craniofacial malformation
| Classification according to ICD-10 | |
|---|---|
| Q18 | Other congenital malformations of the face and neck |
| Q87.0 | Congenital malformation syndromes with predominant involvement of the face |
| ICD-10 online (WHO version 2019) | |
Craniofacial malformations are complex malformations that have been known for a long time with significant effects on those affected. In 1894, the French doctor Eugene Apert was the first to describe this type of malformation together with the coalescence of the fingers and toes - the Apert syndrome named after him .
Around 400 people live in Germany, 250 of them children and young people. The frequency is around 1 in 90,000 births.
Emergence
Craniofacial malformations are the result of genetic changes that are present before birth. The five most common syndromes are
- the Apert syndrome ,
- the Pfeiffer syndrome ,
- the Crouzon syndrome ,
- the Carpenter syndrome and
- the Saethre-Chotzen syndrome .
Typical for all five malformations are malformations of the head and midface area and the musculoskeletal system in various forms.
treatment
The most pronounced form of craniofacial malformations is the Apert syndrome in which the fingers and toes, sometimes bony, have also grown together.
Bony malformations can be partially corrected through complex operations . Mental development can also proceed normally. However, developmental disorders of varying severity are often observed.
Treatments today are not yet perfect, but are an extraordinary step up from what was available 20 years ago and there is hope that rapid progress will be made in the future as well.
But in the present day a large group of doctors and therapists is still required to provide treatment that gives those affected the chance of a contented life.
