Dwarfism, dwarfism or short stature are common colloquial terms for microsomia. It does not initially represent a disease in itself, but can appear as a symptom of many different diseases. However, it often results in further complaints in the lives of those affected.

What is dwarfism?

The dwarfism itself is not a symptom. It is a consequence of nutritional, idiopathic, intrauterine, metabolic, chromosomal, endocrine or dysplasia-related conditions.
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About 100, 000 people in Germany are considered short-lived. Often, they are still marginalized and discriminated against in society today and do not get the same opportunities as "normal-sized" people.

As dwarfism is called a clearly restricted and the norm below body growth, whose appearance, thanks to ancient sculptures, can be traced back to ancient Egypt, so almost 5000 years. In males, maximum size is 1.50 m and females maximum height is 1.40 m.

Some sufferers do not even measure one meter. The medical term is microsomia. Although pathological changes in the structure of the skeleton can lead to a very small body size, which can sometimes also fall below the limit of 1.50 m or 1.40 m, they are not referred to as dwarfism.

causes

Dwarfism can have several causes, but in most cases it limits the production of the growth hormone somatropin, which leads to a restriction of physical growth. In addition to a metabolic illness or an unhealthy lifestyle of the mother during pregnancy (smoking, alcohol or drug abuse), even a brain tumor, a hormone disorder or defective genes can be triggers for low growth.

Researchers at the University of Leipzig have recently identified a gene that causes dwarfism. However, it is not absolutely necessary that one of the two parents also suffers from dwarfism, since the gene can remain inactive for several generations away.

Furthermore, even a disturbed social environment, such as a family that is not intact, can lead to delays in physical development, causing dwarfism. In spite of this multitude of already discovered triggers, not all have yet been revealed. Overall, experts suspect over 450 different causes of dwarfism.

Typical diseases

  • Noonan syndrome
  • Prader-Willi Syndrome
  • Vitreous bone disease (Osteogenesis imperfecta)
  • Cat Crisps Syndrome (Cri-du-Chat Syndrome)
  • cretinism

Symptoms, complaints & signs

Despite numerous causers, the dwarfism (microsomia) can not be regarded as a separate disease. The dwarfism itself is not a symptom. It is a consequence of nutritional, idiopathic, intrauterine, metabolic, chromosomal, endocrine or dysplasia-related conditions. The short stature does not always have to cause physical discomfort.

Nevertheless, because of their genetic disposition, small people may suffer from various ailments and symptoms associated with their short stature. Since there are different triggers for a dwarfism, they must first be determined. So later complaints can be countered as early as possible. The symptoms are individually different.

In addition to mental stress, which are exposed to life-long dwarfish people, in achondroplasia-related dwarfism by skeletal dysplasia of the mother hearing problems or deafness may occur as a concomitant symptom. In addition, achondroplasia can lead to secondary symptoms such as age-related joint wear and severe back pain. The idiopathic dwarfism occurs frequently in the family.

For young adults with impaired production of the growth hormone somatropin, treatment with growth hormone in childhood may increase the size of the body. If dwarfism occurs as a result of skeletal dysplasia, such as osteogenesis imperfecta, the affected individuals' bones break easily. Physicians therefore also speak of the vitreous bone disease. It is based on a disorder of collagen synthesis. As a result, it can lead to dwarfism and painful deformities on the skeleton.

Diagnosis & History

Infobox

ICD-10: Q77.4

Literature: Daum, D .: The little human !: dwarfism or achondroplasia, 2013

Dwarfism can be detected with close observation of the child already in infancy. In about 5 percent of births with a normal course, the children are too small, but almost 90 percent of this make up for this backlog within two years.

However, as a precaution, neonates with a size deficit should be examined by a specialist, such as a pediatric endocrinologist, who can determine bone age, diagnose cerebral disease, or detect decreased secretion of growth hormone by using left hand X-rays.

In addition, the pediatrician also documents the physical development of the child during check-ups and can sound the alarm if necessary, if he suspects a short stature.

complications

If achondroplasia is the cause of dwarfism, life expectancy is not significantly affected. However, complications may occur due to the growth disorder. One of the conceivable complications often occurs due to mental stress.

Small people are marginalized in society. They struggle with countless difficulties to cope with their everyday lives. This can put a heavy strain on those affected, sometimes leading to depression. Overall, however, the attitude toward the dodgy is now more tolerant.

Especially when children are affected by dwarfism, the cruelty of others often knows no mercy. Children with achondroplasia also often suffer from damage to the ears. You have complaints while listening. Some experience a complete hearing loss. This puts additional strain on the psyche. Suicidal thoughts are possible, especially during puberty.

Complications also occur in achondroplasia-related dwarfism often due to a developmental delay. These can cause mental limitations, but also malformations. More often this leads to sensibility disorders. Another problem is that the achondroplasia hardly offers treatment options. The symptoms of dwarfism can only be partially corrected, usually surgically. It can lead to intrafamilial complications that make therapeutic interventions necessary for those affected.

When should you go to the doctor?

Shows a growing child in direct comparison to peers a particularly small growth, a doctor's visit should be made to clarify the abnormality. The first indications can be perceived with a good observation of the relatives already in the first months of life. Since low physical growth is a concomitant symptom of a present disease, further investigations are necessary. Frequently, regular check-ups are carried out to check the condition of the newborn in infancy.

In these checks, the changed growth of the child can already be discussed with the pediatrician. In many cases there are genetic dispositions, metabolic disorders, brain diseases, hormonal disorders or other life-threatening diseases that need to be diagnosed and treated. So that no serious disturbances occur in the further developmental process of the child, the size deficit can be determined in time by means of tests and imaging procedures.

If there are musculoskeletal problems, impaired mobility or joint discomfort, consult a doctor. If psychic peculiarities occur or if behavioral problems arise, the child needs therapeutic support. Cognitive impairment, pain, cracking noises of the bones and general malaise require a visit to the doctor. A learning disability, memory disorders, irregularities of the skin, deformities in the facial area or abnormalities of hair growth should also be examined by a doctor.

Treatment & Therapy

The treatment options are varied and must be adapted to the respective triggers for the dwarfism. In case of inadequate production of the growth hormone somatropin, which is normally responsible for the pituitary gland, this can be compensated by the supply of artificially produced somatropin and in many cases lead to a normal growth of the child.

However, the dwarfism must be diagnosed at an early stage and a therapy should be initiated at a very young age, as a treatment would not work after closing the growth plates. In other cases, physiotherapy can also lead to an improvement in growth. In addition, if therapy has started too late, or if treatment for short stature is simply not possible, there is also the option of surgically extending the arms and legs, which can make the patient up to 20 cm taller.

First of all, the arms and legs are broken, which are then joined together with the help of splints to artificially lengthen the bones. However, this is very tedious and causes great inconvenience, since often more than ten operations are necessary to achieve a satisfactory result and to defeat the dwarfism.

Outlook & Forecast

People diagnosed with dwarfism receive an unfavorable prognosis in most cases. Ultimately, however, the course of the disease depends on the causative disorder. As a general rule, there will be no relief of complaints if medical treatment is refused.

If dwarfism is due to deficient production of the growth hormone somatropin, this can be treated in medical treatment. Decisive for the recovery is the early diagnosis. A change in height is possible within the growth process of a child or adolescent. If the drugs are administered during the development process, there is the prospect of reaching normal size.

In most patients, the administration of medication is not expected to be symptom-free. The dwarfism is not an independent disease, but is found in a variety of cases as a symptom of an existing underlying disease. This is often severe and must be medically treated. Physical growth is taken into account in the preparation of the treatment plan, but often can not be changed in the form that a normal size of the patient is achieved.

Many sufferers experience various sequelae due to the physical abnormalities. It comes to mental and emotional impairments, which increase the probability of occurrence of a mental disorder in the further course.

prevention

Either way, people with dwarfism have a harder time in life than people beyond the "forty-one", be it at work, in education or in everyday life. Despite positive developments in recent decades, people with short stature are still the target of discrimination and prejudice.

aftercare

The purpose of the aftercare is, inter alia, to prevent the recurrence of a disease. However, this can not be effective at dwarfism. The disease is no longer recoverable from the age of majority. Only adolescents can influence growth under certain circumstances.

For example, hormone therapy promises success. In addition, dwarfism has no compelling effect on life expectancy. In many cases there is no reason for medical measures. Problems that arise from a short stature usually affect the psychosocial area. If people experience exclusion as well as professional and private disadvantages, they often develop a mental imbalance.

As part of a therapy, sufferers are instructed to learn new self-esteem and to experience other life perspectives. A further goal of aftercare, namely to provide everyday support through aids, is usually not necessary. Housing equipment and workstations can be adapted to the body size of the little ones. Employers receive financial support from the state for integration.

Unlike a tumor disease, dwarfism usually brings no aftercare with it. The life expectancy of affected people need not be diminished. Physical complaints are not necessarily to be expected. Patients can cope with a normal everyday life. Conflicts result from psychosocial disadvantages and can be overcome by an accompanying therapy.

You can do that yourself

In case of a short stature, the affected person has no possibilities with his own strength to change his height. Despite the efforts, he can not change the physical conditions, as they will remain largely stable throughout their lives. The affected person, on the other hand, can do a lot for himself and his emotional well-being despite the physical blemish.

With a healthy lifestyle, a balanced diet and adequate exercise, life satisfaction generally increases immensely. In addition, a stable social environment, regular recreational activities, and professional recognition are important in meeting the day-to-day challenges. Emotional firmness and various strategies for overcoming mental obstacles also help to experience a lasting zest for life. With a strong sense of self-esteem and self-esteem, many sufferers of dwarfism are able to handle the physical issues.

In everyday life, it is helpful if the interior or means of transport are adapted to the needs of the patient. This allows an independent life, which can be largely free of the dependence of other people. In addition, sharing with other youngsters can be helpful in strengthening one another or receiving important hints and tips. Basically, it can be beneficial not to see the dwarfism as a decision criterion for a fulfilled life.

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