Definitions of Dysmelia

Definitions of Dysmelia

A Dysmelia can take various forms. As a rule, individually appropriate therapeutic measures depend on the form of the malformation.

What is dysmelia?

According to Howsmb, dysmelia is a malformation that affects the limbs (legs, arms, hands and / or arms). Malformations in the context of dysmelia are already congenital. Depending on the person affected, several limbs as well as just a single limb can be affected by the malformation.

Medicine differentiates between different forms of dysmelia: A so-called amelia describes the absence of a complete extremity or several complete extremities. If there is a phocomelia in the context of a dysmelia, feet or hands are placed directly on the hips or shoulders.

If a dysmelia develops in the form of a peromelia, this manifests itself in the affected person in the stump formation on the limbs. Finally, in so-called ectromelia, the long bones of the extremities cause malformations that occur. Around 0.02% of people worldwide have dysmelia.


Although dysmelia is a congenital malformation, it is seldom inherited or caused by a genetic defect. Often, however, the exact causes of dysmelia cannot be determined.

In many cases, external influences during pregnancy are probably partly responsible for the development of dysmelia. For example, various viral infections can contribute to a corresponding malformation. A lack of oxygen in the embryo is also a possible cause of dysmelia.

Furthermore, too little amniotic fluid or malnutrition (such as a deficiency in B vitamins) in the pregnant woman can hide behind dysmelia. Various hormone preparations or amalgams are also suspected of promoting the development of malformations. Last but not least, substance abuse in pregnant women is also believed to contribute to dysmelia.

Symptoms, ailments & signs

Dysmelia usually manifests itself through clear symptoms and complaints. The insufficient supply of oxygen leads to various malformations of the limbs. These can usually be recognized before birth via ultrasound or at the latest after delivery through a visual diagnosis.

As a rule, the malformations appear on the limbs, especially on the fingers and toes. Affected children usually suffer from several disabilities. The malformations are accompanied by restricted mobility. This means that those affected can only move their fingers to a limited extent or not at all. The disabilities often result in secondary illnesses and various complaints.

In the affected areas of the body there are typically circulatory disorders, but also eczema, bleeding, phantom pain and edema, always depending on the type and severity of the malformation. In severe cases, the malformations can cause permanent physical disabilities, for example if they occur in the area of ​​the spine or affect a large part of the limbs.

Because dysmelia develops in the last few months of pregnancy, the condition can sometimes be identified by unusual contractions. An ultrasound examination provides clarity about the symptoms and enables rapid and targeted treatment.

Diagnosis & course

An existing dysmelia can already be diagnosed in the womb; medicine also calls such diagnostics so-called prenatal diagnostics.

Such a prenatal diagnosis to determine a dysmelia is possible, for example, through the use of a fine ultrasound – with the help of a very high-resolution ultrasound device it is possible to visualize malformations of the unborn child.

The course of a dysmelia differs depending on the corresponding form of the malformation. The development of the extremities in the unborn child is in a very sensitive phase from around the 29th to the 46th day of pregnancy; Developmental disorders, expressed as dysmelia, are likely to occur during this period.

An existing dysmelia does not usually change in the course of life. However, appropriate supportive measures can make everyday life easier for those affected.


There are many different complications associated with dysmelia. In general, the patient’s life becomes extremely difficult and ordinary activities can no longer be performed. Most of the time, those affected are also dependent on the help of other people.

The malformations are also visible to other people and can therefore also lead to social problems. In many cases, children with dysmelia are bullied or teased and fail to make friends. This can lead to an aggressive attitude that leads to social exclusion.

The parents of the children are also often exposed to psychological complaints and have to be looked after by a psychologist. So far there is no cure for dysmelia. However, there are no complications with this disease. Symptoms are permanent and will not get worse or get better.

For this reason, no further complications can arise during treatment. This is usually done with the help of various aids that can contribute to the patient being able to cope with his everyday life mostly without the help of other people and thus no longer being completely restricted in life.

When should you go to the doctor?

Dysmelia is usually diagnosed in the womb or immediately after birth. Parents of an affected child should speak to the pediatrician regularly and also consult a specialist who can treat the deformities in a targeted manner. The child will be dependent on regular check-ups anyway and sometimes also needs therapeutic support. Especially when the child is attending kindergarten or starting school for the first time, careful attention should be paid to any changes in behavior.

Often dysmelia patients are marginalized and develop psychological problems such as depression or inferiority complexes in early childhood. Parents who notice this should seek advice from a psychologist and also speak to those responsible in kindergarten or school. Should the dysmelia lead to restrictions in later life, a doctor must be consulted in any case. In most cases, the symptoms can at least be alleviated through therapeutic measures. The prerequisites for this are regular routine examinations and comprehensive support from relatives.

Treatment & Therapy

The treatment of dysmelia is usually designed individually according to the needs of the person affected and differs depending on the form of the malformation. In most cases, appropriate therapy begins immediately after birth.

Therapy for dysmelia usually integrates various therapeutic approaches: For example, a person affected by dysmelia is therapeutically accompanied by both doctors and physiotherapists; Depending on the individual case, psychological support can also have a positive effect on how an affected person deals with the existing malformation.

If, for example, joints are impaired in their mobility due to dysmelia, good results can often be achieved through intensive physiotherapeutic measures; promoting the mobility of joints is also referred to as so-called redressing in this context. Various malformations in the context of dysmelia can be treated surgically so that impaired functions can be improved.

The age at which such surgical interventions take place depends, among other things, on the type of malformation. Finally, various prostheses can be used to replace missing limbs.

Outlook & forecast

If dysmelia is detected and treated early, the prognosis is usually very good. Those affected can usually lead a relatively symptom-free life. However, the majority of patients are dependent on medical and human help for their entire life. Medical check-ups and therapeutic measures have to be carried out for many years and often even for the rest of your life, as the malformations can repeatedly lead to complications.

Serious malformations can make surgical interventions necessary. These represent a considerable burden for those affected, and in the long term, regular visits to the doctor and examinations also limit the quality of life and thus the patient’s well-being. If there is no or inadequate treatment, the numerous restrictions on movement can cause serious health problems. Many of those affected suffer from gait disorders, problems grasping objects or posture problems. All of these ailments cause serious physical and mental ailments over the long term.

If the patient is not given comprehensive medical care, this can lead to a variety of physical complications, but also to depression, social anxiety and inferiority complexes. In principle, however, the prospects for dysmelia are good.


Since the exact causes of dysmelia are often not known, targeted prevention is only possible to a limited extent. However, the risk of dysmelia occurring can be reduced if pregnant women take various behavioral measures to heart; For example, avoiding malnutrition, avoiding illegal drugs and regular check- ups can all help to counteract dysmelia in the unborn child.


In the case of dysmelia, in most cases there are no or very few measures and options available for follow-up care. Since this disease involves the occurrence of various malformations, these must in any case be recognized and treated by a doctor at an early stage, as this cannot lead to a self-healing process. An early diagnosis usually has a positive effect on the further course of the dysmelia and can prevent the symptoms from worsening.

In most cases, those affected with dysmelia are dependent on surgical interventions to alleviate the symptoms. Those affected should then take it easy on their bodies for a while. Exertion or stressful activities should be avoided in order to avoid unnecessary stress on the body. Other symptoms can be alleviated through physiotherapy measures.

The person concerned can repeat many exercises in their own home and thereby improve the movement of the body. In many cases, the people affected are also dependent on psychological treatment, whereby discussions with friends and family are also very useful.

You can do that yourself

Depending on the type of malformation and the individual needs of the person affected, dysmelia can be treated independently to a certain extent.

This is achieved, for example, through physiotherapeutic measures such as physiotherapy and movement exercises in everyday life. Parents should encourage the affected child to exercise in order to improve the mobility of the damaged joints in the long term. In addition, the affected children can take advantage of therapeutic advice and often come into contact with other affected persons.

The parents and relatives of a dysmelia patient are usually offered therapeutic support as well. The responsible doctor will recommend any contact persons (self-help groups, specialist clinics for malformations, etc.) and sometimes also support those affected with the therapeutic treatment of the malformation.

Since the dysmelia cannot yet be completely cured, the purchase of prostheses and other aids makes sense. In the long term, those affected and their relatives must learn to live with the disease. This is achieved on the one hand through therapeutic measures and on the other hand through an open approach to the disease. Those affected can find contact persons in forums, self-help groups and the children’s network for malformations.


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