Dysmelia – anatomical features from birthWhen a baby is born, one of the first examinations is to look at the arms and hands, legs and feet of the newborn. Not all limbs are always normally developed or fully present. If hands, arms or legs show a malformation, these different developments are referred to under the medical term Dysmelia summarized. Development of the baby. Is thus a congenital malformation. Find out here about the background, different variants and treatment options for dysmelia.
Dysmelia cases in Germany
22 cases in 2019
22 cases in 2022 ( prognosis )
What is a dysmelia?
Dysmelia (ICD code Q73.8) understand physicians Congenital malformations, which can affect arms, legs, hands, fingers or feet. It is therefore a developmental disorder of the extremities and there can be different expressions of dysmelia. Depending on how the dysmelia is developed, the affected person has no complications in everyday life or only slight functional limitations. For major limitations, there are targeted treatment options, concomitant therapies and also prostheses help many people with dysmelia.
Different forms of dysmelia
There are different manifestations of dysmelia. When parents receive a diagnosis for their child, they suddenly encounter a plethora of medical terms. A brief overview should provide clarity:
Amelia means that no limbs are present at all. – If the malformations exist on all four limbs, there is a Tetramelia before. – If single or several fingers or toes are affected, this is a Oligodactyly. – In the case of an amputation-like stump due to a missing forearm or lower leg, doctors speak of a Peromelia. – Shortened fingers or toes bear the designation Brachydactyly (from Greek brachýs – short and daktylos – finger) – When arms or legs are shortened, it is possible to speak of a Acromelia, mesomelia, hemimelia or rhizomelia the speech. – If fingers or toes are fused together, this is called syndactyly (in the case of two joined fingers or toes, Ectrodactyly or Polysyndactyly (in the case of several fused fingers or toes) denotes. – In some people, however, too many limbs or fingers or toes may be present. In such cases there is Polymelia or. Polydactyly. – If, on the other hand, limb components such as tubular bones are missing, this is considered a Ectromelia or phocomelia.
What are the possible causes of dysmelia??
Dysmelia is already congenital and is essentially due to exogenous (external) and endogenous (internal) factors. These are on the one hand External environmental influences and genetics. A direct assignment of the malformation to exact triggers is usually not even possible. During pregnancy and the development of the embryo, there are a number of complex factors that interact with each other.
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External influences include u. a. various Viral infections, that trigger certain malformations. But also Oxygen deficiency of the embryo, a Amniotic band syndrome (in which parts of the baby's body are strangulated by connective tie bands during development) and a Malnutrition of the mother are classified as conceivable triggers.
The same applies to Side effects of drugs or hormonal preparations taken by the pregnant woman. The drug thalidomide, which caused the thalidomide scandal, became well known for a severe side effect caused by a drug. Furthermore Drug abuse during pregnancy as a possible trigger of the malformations.
So, attentive use of medicines during pregnancy is very important, as well as medical control of an underlying disease such as diabetes. If the dysmelia develops during pregnancy due to external influences, according to doctors there is no further inheritance.
Symptoms due to dysmelia
Typical symptoms of dysmelia are Malformations of the limbs. These are often so clear that they can already be detected during pregnancy by ultrasound (sonography). Particularly affected by the malformations are Fingers and toes. As a result, the affected children often experience movement restrictions or disabilities, which can be either minor or more pronounced. It can also lead to secondary diseases such as postural deformities. Thereby joint wear (Arthrose) come. The characteristic complaints of dysmelia also include the following Circulatory disorders. Depending on which form of dysmelia it is and on which part of the body it is noticeable, other symptoms occur such as:
– edema (water retention) – eczema – phantom pain – hemorrhaging
Changes in dysmelia do not normally occur during life. However, the everyday life of the affected persons can be made easier by supporting measures.
It is often possible to detect the dysmelia already to diagnose before birth, which takes place during prenatal diagnostics. Thereby comes u. a. A high-resolution ultrasound device is used for fine sonography, so that the malformations of the unborn child can be visually displayed. As a rule, dysmelia develops during the 29. and 45. Pregnancy days. During this time the limbs are developing and therefore this period is considered to be exceedingly sensitive phase.
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Therapy: early exercise therapy and aids
Since dysmelia can usually be diagnosed at a very early stage, sometimes even in the unborn child, the following can be done individual therapies at an early stage are started. The way in which the malformations are treated depends on which form is present. The treatment usually begins shortly after birth so that the child can learn healthy and functional movement patterns right from the start learn healthy and functional movement patterns can. In most cases, several physicians and therapists are involved, as in the occupational therapy, for training of everyday skills and Physiotherapy For better mobility. These therapies are carried out as part of a prescribed by the doctor over the long term and make a doctor's consultation with examination every 12 weeks necessary. In some cases, psychological support is also considered useful.
In addition, there is the option of surgical interventions to achieve an improvement in the functions of the affected limbs. The age at which an operation is performed depends primarily on the form of the malformation. Nowadays, operations are usually performed only if they allow the affected person to improve the gripping function of the hands. Operations are also common, in which the missing limbs are Toes transplanted or fused toes and fingers surgically separated. The distances between the fingers can also be corrected.
A further possible therapeutic measure is the use of different Prostheses. Depending on the needs of the affected person, a prosthesis is a useful aid. There are simple and technically more complex prosthesis models, for example with muscle pulse-controlled microprocessors.
Simpler Aids, that make everyday life more comfortable are silicone aids that can be used for eating, writing or sports. As individually as malformations develop and are pronounced, the therapy and help possibilities are also very wide-ranging. Therefore, each child needs an individual therapy, adapted to his everyday life and his stage of development and put together.
Prevention and prognosis
The exact Causes of dysmelia are largely unknown. For this reason it is difficult to prevent the deformities effectively. However, during pregnancy, the risk of dysmelia can be reduced if the expectant mother eats a healthy diet, strictly avoids alcohol and drug consumption, and regularly attends medical check-ups. In the case of pre-existing diseases, such as diabetes or a thyroid disease, regular monitoring of the metabolic situation during pregnancy is very important. Despite all precautions, malformation cannot be completely ruled out due to the many factors influencing the baby's development.
Provided that dysmelia is diagnosed at an early stage and treated appropriately, it takes normally has a favorable course. This means that many affected persons are able to lead their lives without major complaints. In some cases, however, it is necessary to resort to medical aids, the support of other people or medication.