Short stature, short stature, or short stature are commonly used colloquial terms for microsomia. It does not initially represent a disease in its own right, but can appear as a symptom of many different diseases. However, it often results in other complaints in the life of the affected person.
What is short stature?
About 100,000 people in Germany are considered to be short stature. Often they are still excluded and discriminated against in society today and do not get the same opportunities as “normal-sized” people. Short stature is defined as a significantly restricted body growth that falls short of the norm, the occurrence of which, thanks to ancient sculptures, can be traced back to ancient Egypt, almost 5,000 years ago. For men, short stature is defined as a height of 1.50 m or less, and for women, a height of 1.40 m or less. Some affected persons do not even measure one meter. The medical term is microsomia. Although pathological changes in the structure of the skeleton can also lead to a very short height, which in some cases can also fall below the limit of 1.50 m or 1.40 m, they are still not called short stature.
Causes
Short stature can have various causes, but in most cases they limit the production of the growth hormone somatropin, which leads to a restriction of physical growth. In addition to a metabolic disease or an unhealthy lifestyle of the mother during pregnancy (smoking, alcohol or drug abuse), a brain tumor, a hormone disorder or defective hereditary factors can also be triggers for insufficient growth. Researchers at the University of Leipzig, for example, recently identified a gene that causes short stature. However, it is not absolutely necessary that one of the two parents also suffers from short stature, since the gene can also remain inactive over several generations. Furthermore, even a disturbed social environment, such as a non-intact family, can lead to delays in physical development and thus cause short stature. Despite this large number of already discovered triggers, however, by no means all have been revealed. In total, experts suspect more than 450 different causes of short stature.
Typical diseases
- Noonan syndrome
- Prader-Willi syndrome
- Brittle bone disease (osteogenesis imperfecta)
- Cat Cry Syndrome (Cri-du-Chat Syndrome).
- Cretinism
Symptoms, complaints and signs
Despite numerous causative agents, short stature (microsomia) cannot be considered a disease in its own right. Short stature does not itself form a symptom. It is a consequence of nutritional, idiopathic, intrauterine, metabolic, chromosomal, endocrine, or dysplasia-related conditions. Short stature need not always result in physical symptoms. Nevertheless, due to their genetic disposition, short stature individuals may suffer from various complaints and symptoms associated with their short stature. Since there are various triggers for short stature, these must first be determined. In this way, possible complaints can be counteracted as early as possible. The complaints that occur vary from person to person. In addition to psychological stress, to which people with short stature are exposed throughout their lives, hearing problems or deafness can occur as accompanying symptoms in achondroplasia-related short stature due to skeletal dysplasia of the mother. In addition, achondroplasia can lead to secondary symptoms such as joint wear that is not age-appropriate and severe back pain. Idiopathic short stature runs in families. In short stature patients in whom the production of the growth hormone somatropin is disturbed, treatment with growth hormones in childhood can lead to a larger body size. If short stature occurs as a result of skeletal dysplasia such as osteogenesis imperfecta, the bones of those affected break easily. Doctors therefore also speak of brittle bone disease. It is based on a disorder of collagen synthesis. As a result, short stature and painful deformities of the skeleton may occur.
Diagnosis and course
Infobox
ICD-10: Q77.4
Literature: Daum, D.: The little person!: Short stature or achondroplasia, 2013.
Short stature can be detected in infancy if the child is closely observed. In about 5 percent of births with a normal course, the children are too small; however, nearly 90 percent of them make up for this shortfall within two years. Nevertheless, as a precaution, newborns with a size deficit should be examined by a specialist, such as a pediatric endocrinologist, who can determine bone age, diagnose cerebral diseases or detect reduced secretion of growth hormones by taking x-rays of the left hand. In addition, the pediatrician also documents the child’s physical development during checkups and can sound the alarm if necessary should he or she suspect short stature.
Complications
When achondroplasia is the cause of short stature, life expectancy is not significantly affected. However, complications can still occur due to the growth disorder. One of the conceivable complications often occurs due to the psychological stress. People who have grown small are marginalized in society. They have to struggle with countless difficulties to cope with their everyday life. This can place a heavy psychological burden on those affected, sometimes leading to depression. Overall, however, attitudes toward dwarfs have become more tolerant. Especially when children are affected by dwarfism, the cruelty of others often knows no quarter. Children with achondroplasia also often suffer from damage to the ears. They have trouble hearing. Some experience complete hearing loss. This puts additional strain on the psyche. Suicidal thoughts are possible, especially during puberty. Complications of achondroplasia-related short stature often include developmental delays. These can result in mental limitations, but also in malformations. More often, sensory disturbances occur as a result. It is also problematic that achondroplasia offers hardly any treatment options. The symptoms of the small stature can only be partially corrected, usually surgically. Intrafamilial complications may occur, necessitating therapeutic interventions for affected individuals.
When should you see a doctor?
If a growing child shows particularly small growth in direct comparison to peers, a visit to the doctor should be made to clarify the abnormality. The first indications can be noticed in the first months of life if the relatives observe well. Since small physical growth is an accompanying symptom of a present disease, further examinations are necessary. Frequently, regular preventive medical check-ups take place in infancy to check the health condition of the newborn. During these check-ups, the child’s altered growth can already be discussed with the pediatrician. In many cases, there are genetic dispositions, metabolic diseases, brain diseases, hormonal disorders or other life-impairing diseases that need to be diagnosed and treated. In order to avoid serious disorders in the further development process of the child, the size deficit can be detected in time by means of tests and imaging procedures. If there are problems with the musculoskeletal system, mobility restrictions or joint complaints, a doctor should be consulted. If psychological peculiarities develop or behavioral problems occur, the child needs therapeutic support. In case of cognitive impairments, pain, cracking sounds of the bones and a general malaise, a visit to the doctor is necessary. A learning disability, memory problems, irregularities in the appearance of the skin, deformities in the facial area or abnormalities in hair growth should also be examined by a doctor.
Treatment and therapy
Treatment options are varied and must be adapted to the particular trigger for short stature. In the case of insufficient production of the growth hormone somatropin, for which the pituitary gland is normally responsible, this can be compensated by the supply of artificially produced somatropin and in many cases lead to normal growth of the child. However, for this to happen, short stature must be diagnosed at an early stage and therapy must be initiated at a very young age, since treatment would no longer be effective after the growth plates have closed.In other cases, physiotherapy can also lead to an improvement in growth. If therapy was started too late or if treatment of short stature is simply not possible, there is also the option of surgically lengthening the arms and legs, which can make the patient up to 20 cm taller. This involves first breaking the arms and legs, which are then joined together with the help of splints to artificially lengthen the bones. However, this is very lengthy and involves great inconvenience, often requiring more than ten operations to achieve a satisfactory result and defeat short stature.
Prospect and prognosis
In most cases, people diagnosed with short stature receive an unfavorable prognosis. Ultimately, however, the course of the disease depends on the causative disorder. As a general rule, no relief of symptoms will occur if medical treatment is refused. If the short stature is based on a deficient production of the growth hormone somatropin, this can be supplied in a medical treatment. Early diagnosis is crucial for recovery. A change in body size is possible within the growth process of a child or adolescent. If the medicines are administered during the developmental process, there is a prospect of achieving normal height. Most patients are not expected to be free of symptoms even with the administration of medication. Short stature is not a disease in its own right, but is diagnosed as a symptom of an existing underlying disease in a large number of cases. This is often severe and requires medical attention. The physical growth is taken into account when creating the treatment plan, but often cannot be altered in such a way that a normal size of the patient is achieved. Many sufferers develop various secondary disorders as a result of the physical abnormalities. Mental and emotional impairments occur, which in the further course increase the probability of occurrence of a mental disorder.
Prevention
Either way, people with short stature have a harder time in life than people beyond “forty-one,” whether at work, in education, or in everyday life. Despite positive developments in recent decades, people with short stature are still targets of discrimination and prejudice.
Aftercare
One of the purposes of aftercare is to prevent the recurrence of a disease. However, this may not be purposeful in the case of short stature. The disease cannot be corrected after the age of majority. Only in adolescents can growth be influenced under certain circumstances. Hormone therapy, for example, promises success. Moreover, short stature does not necessarily affect life expectancy. In many cases there is no reason for medical measures. Problems arising from short stature mostly concern the psychosocial sphere. If people experience exclusion as well as professional and private disadvantages, a mental imbalance often arises. In the course of therapy, those affected are guided to learn new self-confidence and to experience other perspectives on life. Another goal of aftercare, namely to provide everyday support in the form of aids, is usually not necessary. Apartment furnishings and workplaces can be adapted to the physical dimensions of people of short stature. Employers receive financial support from the state for integration. Unlike a tumor disease, short stature does not usually entail any aftercare. The life expectancy of affected people does not have to be reduced. Physical complaints are not necessarily to be expected. Patients can cope with a normal everyday life. Conflicts result from psychosocial disadvantages and can be managed by accompanying therapy.
What you can do yourself
With short stature, the affected person has no possibilities to change his body size with his own forces. Despite efforts, he cannot change anything about the physical conditions, as these will remain largely stable for life. The affected person, on the other hand, can do a lot for himself and his emotional well-being despite the physical flaw. With a healthy lifestyle, a balanced diet and sufficient exercise, life satisfaction generally increases immensely.In addition, a stable social environment, regular leisure activities and professional recognition are important for successfully mastering everyday challenges. Emotional strength and various strategies for overcoming mental obstacles also help to experience a sustained zest for life. With a strong sense of self-confidence and self-esteem, many people affected by short stature are able to cope with physical issues. In everyday life, it is helpful if interior furnishings or means of transportation are adapted to the needs of the person with the condition. This makes an independent life possible, which can be arranged as far as possible free from the dependence on other people. The exchange with other people of short stature can be additionally helpful to strengthen each other or to get important hints and tips. Basically, it can be beneficial not to see short stature as a decision criterion for a fulfilled life.
