If a child is born with underdeveloped or missing limbs, this is known as dysmelia. Dysmelia occurs during pregnancy as the baby develops and is therefore a congenital malformation. The causes are either hereditary factors or external influences during pregnancy.
Find out more about the background, different variants and treatment options for dysmelia here. You can also find selected dysmelia specialists here.
Dysmelia (ICD code Q73.8) is the medical term for congenital malformations of the
Dysmelia can occur in various forms. If it is mild, the person affected has no complications in everyday life or only slight functional limitations.
For more severe limitations, there are targeted treatment options and accompanying therapies. Prostheses also help many people with dysmelia.
Dysmelia can occur in very different forms and manifestations:
Dysmelia is already congenital. The cause is either exogenous (external) or endogenous (internal) factors. A genetic predisposition is one of the endogenous factors. Dysmelia can therefore be inherited.
During pregnancy, there are a number of complex, exogenous factors that can influence the development of the embryo.
As a rule, dysmelia develops between the 29th and 45th day of pregnancy. The limbs develop during this time and this period is therefore regarded as an extremely sensitive phase.
The limbs develop in the fetus early on in pregnancy. Disorders can then lead to dysmelia © unlimit3d | AdobeStock
External influences include various viral infections that trigger certain malformations. But also
are conceivable triggers.
Some medications or hormone preparations taken by the pregnant woman can also result in malformations. The drug thalidomide, which caused the thalidomide scandal, became very well known as a serious side effect of medication.
Drug abuse during pregnancy is also considered a possible cause of malformations.
Careful handling of medicines during pregnancy is therefore very important. It is also very important that the mother is checked by a doctor for underlying diseases such as diabetes.
If dysmelia develops during pregnancy due to external influences, this form of dysmelia cannot be passed on.
Typical symptoms of dysmelia are malformations of the limbs. These are often so obvious that they can already be detected during pregnancy by ultrasound(sonography).
Fingers and toes are particularly affected by the malformations. The resulting movement restrictions or disabilities can be minor or severe.
It can also lead to secondary diseases such as postural deformities and thus joint wear and tear(osteoarthritis).
The characteristic symptoms of dysmelia also include circulatory disorders.
Depending on the form and location of the dysmelia, other symptoms may occur such as
Dysmelia does not usually improve. However, supportive measures can make everyday life easier for those affected.
It is often possible to diagnose dysmelia before birth as part of prenatal diagnostics. This involves the use of a high-resolution ultrasound device for fine sonography. This allows the malformations of the unborn child to be visualized.
Dysmelia is usually diagnosed at a very early stage, sometimes even in the unborn child. Individualized therapies are therefore possible at an early stage.
The therapy and support options are very wide-ranging and depend on the individual case. Every child needs an individual therapy that is adapted to their everyday life and stage of development.
Treatment usually begins shortly after birth. This allows the child to learn healthy and functional movement patterns right from the start.
Different doctors or therapists are usually involved in the treatment:
These therapies are prescribed by the doctor as part of a long-term treatment plan. They require a medical consultation with an examination every 12 weeks. In some cases, psychological support is also considered useful.
There is also the option of surgery to improve the function of the affected limbs. The age at which an operation is performed depends primarily on the form of the deformity.
Nowadays, operations are usually only carried out if they improve the gripping function of the hands. Operations to transplant missing toes or separate fused toes and fingers are also common. The distance between the fingers can also be corrected.
Prostheses are another possible therapeutic measure. Depending on the needs of the person affected, a prosthesis is a useful aid. There are simple and technically more complex prosthesis models, for example with muscle impulse-controlled microprocessors.
Simpler aids that make everyday life more comfortable are silicone aids. The person affected can use them when eating, writing or doing sport.
The exact causes of dysmelia are largely unknown. For this reason, it is difficult to effectively prevent such a deformity.
However, the risk of dysmelia can be reduced during pregnancy if the expectant mother
If you already have an underlying condition, such as diabetes or thyroid disease, regular monitoring of your metabolism during pregnancy is very important.
Despite all precautionary measures, a malformation cannot be completely ruled out due to the many factors influencing the baby's development.
Dysmelia usually takes a favorable course if appropriate therapy is detected early. This means that many of those affected are able to lead their lives without any major complaints.
In some cases, however, it is necessary to resort to medical aids, the support of other people or medication.
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