Synomyme in a broader sense
- Trisomy 21
- Earlier, but outdated and discriminating: Mongolism
Definition
Trisomy 21Down syndrome is a syndrome caused by a misallocation of the parental chromosomes to the child. The distribution does not follow a specific inheritance, but occurs rather sporadically. Nevertheless there are risk factors. Children with Down syndrome can show different physical and mental handicaps.
How do you recognize children with Down syndrome?
Children who have Down syndrome already have physical characteristics at birth that are relatively specific to this disease. However, affected children do not always have to exhibit these characteristics. One of these features is an additional skin fold in the area of the neck.
However, this disappears with time. Furthermore, birth weight is often lower than in other children and also increases more slowly. The most striking feature, however, is the slanting upward pointing eyes, which have given the disease the nickname mongolism.
This similarity is further emphasized by the often round shape of the face. An additional skin fold can also appear between the eyes, but this does not result in a reduction of vision. Just as typical is a narrow furrow on the inner surface of the hand.
This four-finger furrow runs across the palm of the hand and occurs in almost all children with Down syndrome. But not every child with such a furrow has Down syndrome. In addition to these physical characteristics, children with Down’s syndrome often have cognitive impairments.
Learning difficulties can often be identified, but their severity can vary greatly between those affected. In general, there is a certain delay in development. Certain abilities, such as
EpidemiologyResources
Trisomy 21 was first described in 1866 by the English neurologist John Langdon-Down. The syndrome was also named after him. However, it was not until 1959 that the French geneticist Lejeune discovered the genetic cause of trisomy 21. Today, children with this chromosomal maldistribution are born with a frequency of 1:700. This means that one in 700 newborns in Germany is born with Down syndrome.
