Short stature

Marian Grosser studied human medicine in Munich. In addition, the doctor, who was interested in many things, dared to make some exciting detours: studying philosophy and art history, working on the radio and, finally, also for a Netdoctor.

More about the experts All content is checked by medical journalists.

Doctors speak of short stature (short stature, short stature) when the body size of a person remains below the age-appropriate norm limits. The possible causes of short stature are numerous and often it is just a symptom of another underlying disease. Accordingly, there are very different therapeutic approaches depending on the trigger. Read the most important information about short stature here.

ICD codes for this disease: ICD codes are internationally recognized codes for medical diagnoses. They can be found, for example, in doctor's letters or on certificates of incapacity for work. E45E34Q87E23

Short stature: description

It is estimated that there are around 100,000 short people in Germany. The term “short stature” tends to be rejected by those affected because it has a discriminatory undertone. That is why it is disappearing more and more from linguistic usage.

When are you short?

In medicine, people who are short of stature are those who remain below the 3rd percentile with their height. To put it more simply: If 97 percent of your contemporaries are taller than you are, you are considered to be of short stature. After the increase in length has ended, the limits in this country are 1.50 meters for men and 1.40 meters for women. Ultimately, however, these numbers are relative, as the average size can vary depending on the population.

Short stature is often a temporary phenomenon. Some babies and toddlers are temporarily considered to be of short stature; however, some catch up and are of normal size in adulthood.

How does normal growth work?

From the moment of conception, the person grows - first in the mother's womb and after birth until the end of the growth phase. For girls, this usually ends around the age of 16, for boys at around 19 years of age. Growth can still take place for a few years after that, but then usually only marginally.

A person grows most in the first years of life (about 25 centimeters in the first, eleven centimeters in the second and eight centimeters in the third year) and during puberty (about seven to ten centimeters per year).

The length of the legs is particularly decisive for the height of a person. In the growth plate (epiphysis) of the long bones, new bone substance is continuously grown during the growth phase - the bone is elongated.

The growth of the body is largely controlled by hormones, which in turn stimulate cells in various tissues to multiply or enlarge.The most important growth hormone is the so-called somatotropin, also called growth hormone (GH). It is produced in the pituitary gland and from there released into the bloodstream. Via certain receptors in the liver, somatotropin leads to the release of IGF (insulin-like growth factors) - a hormone that actually causes the growth of various body tissues such as muscles or bones.

Expected final size

How tall a person becomes is largely genetically determined, but it also depends on external factors such as diet, possible illnesses and parental care. The expected final height of a person can be roughly calculated using a rule of thumb. To do this, the mean value is first determined from the sizes of the parents. For girls, 6.5 centimeters are deducted from this value; for boys, 6.5 centimeters are added.

The measurement of bone maturity using an X-ray of the left hand, which allows relatively precise conclusions to be drawn about the final size, is even more reliable.

What types of short stature are there?

There are innumerable forms of short stature. Depending on the point of view, these can be classified into different categories. For example, short stature can be primarily or secondary. One speaks of a primary short stature if it occurs on its own. If, on the other hand, it is only the direct or indirect consequence of another underlying disease, then it is a secondary form.

Short stature can also be divided into an innate and an acquired form.

It is also possible to distinguish whether there is a proportioned or disproportionate short stature: With proportioned short stature, all parts of the body are equally affected by reduced growth, with disproportionate, on the other hand, only individual parts: For example, only arms and legs can be shortened, but the trunk is normal, like this is the case with achondroplasia, for example.

Short stature: symptoms

No general statements can be made about the symptoms of short stature, except, of course, that stunted people have a reduced body length. Everything else depends on the type of short stature. However, a distinction must be made as to whether the symptoms that occur are actually the result of short stature or just further symptoms of a common cause.

In some syndromic diseases, for example, short stature is just one possible symptom of many, but they are all the result of a genetic defect. In the case of achondroplasia, on the other hand, the short stature itself leads to further symptoms such as premature joint wear and back pain.

Short stature: causes and risk factors

There are hundreds of causes that can cause short stature. They can be divided into larger groups, the most important of which are briefly presented here:

Idiopathic short stature

In medicine, “idiopathic” means that a disease occurs independently and its precise cause is not known. There are people who by definition are short, but for whom none of the known triggers can be found. This group also includes the small stature in the family, i.e. a stature that occurs more frequently in a family. The small person then also has small parents. Familial short stature is the most common form of short stature and should not be viewed as a disease.

Intrauterine stature

If a child is born young, the growth of the fetus was already delayed in the womb. One then speaks of intrauterine short stature (uterus = uterus). There can be various causes for this, for example the mother smoked, drank alcohol or took certain medications during pregnancy. A disturbed function of the placenta can also result in intrauterine short stature. In most cases, the affected children catch up with the stunted growth within the first two years of life.

Chromosomal disorders and syndromic diseases

The DNA, the human genome, is organized into a total of 46 chromosomes. Certain disorders that result in a changed chromosome number or a fault in the genetic material can lead to short stature, among other things. This is the case with Down syndrome (trisomy 21), in which chromosome 21 is present three times instead of twice. The Noonen syndrome, Prader-Willi syndrome, Silver-Russell syndrome and DiGeorge syndrome also trigger short stature.

Skeletal dysplasia

In skeletal dysplasias, bone growth is impaired. The most common skeletal dysplasias are achondroplasia and its somewhat milder form, hypochondroplasia. Both are among the most common reasons for short stature. In affected people, the length growth of the long bones is impaired. This shortens the extremities. The bones are normal thick and the trunk is almost normal length. In addition to short stature, a pronounced hollow back with flattened vertebral bodies and a disproportionately enlarged head with a bulging forehead are typical of achondroplasia.

Another skeletal dysplasia associated with short stature is osteogenesis imperfecta, better known as "vitreous bone disease". Due to impaired collagen synthesis, the bones of those affected are unstable and often break. Depending on the severity, a distinction is made between different types of osteogenesis imperfecta. While patients with the mildest variant can still have an outwardly normal physique, the severe forms lead to deformations and short stature due to the numerous fractures.

Endocrine Disorders

This group includes various hormonal disorders that can cause short stature. First of all, there is a deficiency in the growth hormone somatotropin. In addition, too high a dose of cortisol in the body, such as occurs in Cushing's syndrome, can hinder growth. The thyroid hormones triiodothyronine (T3) and thyroxine (T4) are also important for proper growth. Therefore, an underactive thyroid, in which too few of these hormones are produced, can also be the reason for short stature.

Malnutrition

Normal growth cannot take place without a sufficient and balanced supply of food. In countries where many people suffer from food shortages, malnutrition and malnutrition are therefore a common reason for short stature.

In Germany the food supply is sufficient, but there are diseases that prevent the nutrients from being properly absorbed from the intestines into the body. Typical causes of such malabsorption are chronic inflammatory bowel diseases (such as Crohn's disease) and above all celiac disease, which is based on an intolerance to gluten (adhesive protein in cereals). Permanent malabsorption during the growth phase leads to short stature as well as malnutrition.

Organic and metabolic causes

Various disorders of the various organ systems and metabolic processes in the body can also lead to short stature. Above all, diseases of the heart, lungs, liver, intestines and kidneys as well as disorders of the carbohydrate, fat, protein and bone metabolism should be mentioned here.

Constitutional retardation of growth and puberty

In some cases short stature is only due to delayed biological ripening. However, the final size after the end of the growth phase is within the normal range for the "late bloomers". This constitutional delay in growth has a hereditary component, so that at least one parent was often affected as a child.

Psychosocial causes

The effects of psychosocial circumstances on a child's growth are not to be underestimated. Psychological neglect can lead to short stature in the child, whereby the growth deficit can usually be made up again if the environment changes in good time. The technical term for this type of neglect is mental deprivation. Other psychological causes of short stature can be eating disorders and depressive disorders.

Short stature: examination and diagnosis

Because there are so many possible causes of short stature, the approaches to diagnosis are numerous and different. First of all, it is necessary to determine the size of the patient and determine whether there is any short stature. To do this, the measured value is compared with data from peers.

If a child is actually short, an X-ray of the left hand can be used to determine the expected final height. In this way, it can be shown under certain circumstances whether the short stature is already congenital or whether a normal final height can actually be expected, but growth is hindered by other diseases or deficiencies.

In order to get to the bottom of the cause, further diagnostics arise depending on the suspicion. This includes, for example:

Measure the height of parents and siblings to identify a possible family component
Questioning of parents whether they developed a delayed puberty development
Look for other symptoms that are typical of chromosomal disorders or syndromic diseases. If there is a specific suspicion, a targeted molecular genetic examination of the genetic material is carried out.
Examination and measurement of the skeleton for any disproportion
Detailed internal examination including a blood test in order to be able to determine a deficiency or excess of relevant hormones
metabolism-specific diagnostics
In children: precise analysis of the diet and determination of body weight and body mass index (BMI) in order to track down any malnutrition.
For children: assessment of the interaction between parents and child, assessment of the child's psychosocial situation

Short stature: treatment

The therapy of short stature depends on its cause. If it is the result of another underlying disease, an attempt will be made to treat it. However, many forms of short stature cannot be treated at all or only inadequately. In any case, it is important that the short stature is recognized as early as possible and that therapy is started immediately. The sooner this happens, the better the results. Once the growth plates of the bones have closed, the length of the body can no longer be changed.

Growth hormones

With some forms of short stature, it makes sense to administer artificial (recombinant) growth hormones, i.e. somatotropin or IGF as required. This is the case, for example, when a deficiency in these growth hormones is the reason for the short stature. But the administration of growth hormones can also be useful for other causes such as Ullrich-Turner syndrome, kidney failure or intrauterine short stature. This therapeutic approach may also have a positive effect on idiopathic short stature, but so far there are no clear studies on this.

Psychological care

Psychological support for small people and their family environment can help to accept the situation and to deal with it better. Those affected can also find help at the “Federal Association of Short People and Their Families” (BKMF).

Short stature: disease course and prognosis

Short stature in and of itself does not necessarily have to be associated with health risks. Idiopathic short stature, for example, does not affect those affected further, apart from the small body size. In achondroplasia, the increased stress on the joints often leads to signs of wear, but life expectancy is not reduced. Osteogenesis imperfecta, on the other hand, is associated with a reduced life expectancy. If short stature is the symptom of another underlying disease, the prognosis ultimately depends on it.

Tags: therapies medicinal herbal home remedies book tip