Home Diseases Short stature: definition, prognosis, causes

Short stature: definition, prognosis, causes

by Josephine Andrews
Published: Last Updated on 376 views

Physicians speak of short stature (short stature) when a person’s height remains below the normal size for their age. The possible causes of short stature are numerous and often it is just a symptom of another underlying disease. Read the most important information about short stature here.

ICD codes for this disease:

ICD codes are internationally valid codes for medical diagnoses. They can be found, for example, in doctor’s letters or on certificates of incapacity for work.

E45 E34 Q87 E23

quick overview

  • Course of the disease and prognosis: Depending on the cause of the short stature, in many cases normal life expectancy
  • Symptoms: Depending on the cause, usually none except for the shorter body size, joint and back pain in achondroplasia
  • Causes and risk factors: Various causes, malnutrition or malnutrition influence growth
  • Diagnostics: Based on detailed discussions, measurement of height, X-ray examination, physical examination, laboratory tests, molecular genetic tests
  • Treatment: Often not possible, treatment of the underlying disease, sometimes with artificial growth hormones
  • Prevention: Not to be prevented depending on the cause, otherwise adequate and balanced nutrition, healthy social environment

What is short stature?

Short stature is either present at birth or develops later due to growth that is too slow or stopped too soon. Those affected tend to reject the term “short stature” because it has a discriminatory undertone. That is why it is gradually disappearing from everyday usage.  

At what height are you short?

Doctors define a person as short in stature, in which the height remains below the third percentile. Put simply, if 97 percent of your peers are taller than you, you are considered short. Gender also plays a role, with women being smaller on average than men. However, exact dimensions are ultimately relative, since the average size varies by country, gender and age.

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

How does normal growth work?

From the time of conception, the human being grows – first in the womb of the mother and after birth until the end of the growth phase. For girls, this usually ends around the age of 16, for boys about two years later. It is possible to continue growing for a few years after that, but then usually only slightly.

A person grows the most in the first years of life:

  • About 25 centimeters in the first year
  • About eleven centimeters in the second year of life
  • About eight centimeters in the third year
  • Between the age of three and puberty about five to eight centimeters per year
  • About seven to ten centimeters per year during puberty

The length of the legs is the most important factor in determining a person’s size. In the growth plate (epiphysis) of the long bones, the body continuously builds new bone substance during the growth phase – the bone lengthens.

Hormones play a key role in controlling body growth . These stimulate cells in different tissues to multiply or enlarge. The most important growth hormone is the so-called somatotropin, also known as growth hormone (GH). It is produced in the pituitary gland, from where it enters the blood stream .

Via certain receptors in the liver , somatotropin leads to the release of IGF (insulin-like growth factors) – a hormone that causes the actual growth of various body tissues such as muscles or bones.

Expected final size

Human height is largely determined by genetics. But it also depends on external factors such as diet, possible medical conditions and parental care. The expected height of a person can be roughly calculated using a rule of thumb. To do this, you first determine the mean value from the sizes of the parents. For girls, you subtract 6.5 centimeters from this value, for boys, on the other hand, you add 6.5 centimeters.

Even more reliable is the measurement of bone maturity using an X-ray of the left hand . This allows relatively accurate conclusions to be drawn about the final or adult size.

What forms of short stature are there?

There are many forms of short stature. Depending on the point of view, these can be classified into different categories. For example, doctors distinguish between a primary and a secondary form of short stature. One speaks of primary short stature when 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.

In the case of short stature, a distinction must also be made between a congenital and an acquired form.

It is possible to make another distinction, namely between proportionate and disproportionate short stature: in proportionate short stature all parts of the body are equally affected by reduced growth, while in disproportionate short stature only individual parts are affected. In this case, for example, only the arms and legs are shortened, but the torso is of normal size, as is the case with achondroplasia.

How is short stature?

Short stature in itself is not necessarily associated with health risks. For example, if the short stature occurs alone and is not caused by an illness, there is no health impairment. Life expectancy is the same as that of a person of normal height.

In certain forms of short stature such as achondroplasia, there is increased stress on the joints. Although this often leads to premature signs of wear, the life expectancy is not reduced as a result.

If, on the other hand, the cause of short stature is the rare hereditary disease osteogenesis imperfecta (brittle bone disease), this may lead to a reduced life expectancy. This depends on the type of osteogenesis imperfecta. The most common type of the disease is not associated with any shortened life expectancy.

When short stature is a symptom of another underlying condition, the prognosis ultimately depends on that condition. 

What are the symptoms of short stature?

No general statements can be made about symptoms of short stature, except, of course, that short people have a reduced body length. Everything else depends on the type of short stature. However, doctors distinguish whether the symptoms that occur are actually the result of short stature or other symptoms of a common cause.

In some syndromic diseases, for example, short stature is just one possible symptom of many. These diseases are all the result of a genetic error. In achondroplasia, another genetic form of short stature, the short stature itself leads to other symptoms such as premature joint wear and tear and back pain.

How does short stature come about?

There are countless causes that can lead to short stature. They can be divided into larger groups. The most important are briefly presented below:

Idiopathic short stature

In medicine, “idiopathic” means that a disease occurs on its own and the exact cause is not known. There are people who are short by definition, but for whom none of the known triggers can be found. This group includes familial short stature, ie a short stature that occurs frequently in a family. The person of short stature then usually has at least one parent of short stature. Familial short stature is the most common form of short stature and should not be considered a disease.

Intrauterine short stature

If a child is born short, the growth of the fetus was already delayed in the womb . One then speaks of intrauterine short growth (uterus = uterus). There are various reasons for this, for example that the mother was chronically ill during pregnancy, took certain medications, smoked or drank alcohol. A disturbed function of the placenta may also lead to intrauterine short stature.

In most cases, the affected children make up for the growth retardation within the first two years of life.

Chromosomal disorders and syndromic diseases

In the case of chromosomal disorders and syndromic diseases, short stature is caused by chromosomal disorders. The DNA, the human genome, is organized into a total of 46 chromosomes . Certain disorders that result in an altered number of chromosomes or a defect in the genetic material sometimes lead to short stature, among other things.

These diseases are usually very diverse and are associated with other disabilities. Examples include Down syndrome (trisomy 21), in which chromosome 21 is present three times instead of twice, or Ullrich-Turner syndrome. In addition, the Noonen syndrome, the Prader-Willi syndrome , the Silver-Russell syndrome and the DiGeorge syndrome trigger short stature.

skeletal dysplasia

Skeletal dysplasia results in impaired bone growth. 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 longitudinal growth of the long bones is impaired. As a result, the extremities are shortened.

However, the bones are of normal thickness and the trunk is close to normal in 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 “brittle bone disease”. Due to impaired collagen synthesis, the bones of those affected are unstable and often break. Depending on the severity, there are different types of osteogenesis imperfecta. While patients with the mildest variant still have an outwardly normal physique in some cases, the severe forms lead to deformation and short stature due to the numerous fractures.

endocrine diseases

This group includes various hormonal disorders that may cause short stature. The first is a lack of the growth hormone somatotropin. Furthermore, too high a dose of cortisol in the body, such as occurs in Cushing’s syndrome, causes growth disorders.

The thyroid hormones triiodothyronine (T3) and thyroxine (T4) are also important for healthy growth. For this reason, hypothyroidism , in which the thyroid produces too little of these hormones, is sometimes a cause of short stature.

malnutrition

Normal growth is not possible without an adequate and balanced supply of food. In countries where many people suffer from a lack of food, malnutrition and malnutrition are therefore a common reason for short stature.

If the food supply is sufficient, there are still diseases that disrupt or prevent the absorption of nutrients 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 (glue 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 lead in some cases to short stature. Mention should be made here above all of diseases of the heart , lungs , liver, intestines and kidneys as well as disorders of the carbohydrate, fat, protein and bone metabolism.

Constitutional delay in growth and puberty

In some cases, short stature is due to delayed biological maturation. The final size after the end of the growth phase is in the “late bloomers” but in the normal range. This constitutional growth retardation has a hereditary component, so often at least one parent was affected as a child.

Psychosocial causes

The impact of psychosocial circumstances on a child’s growth should not be underestimated. There is a possibility that psychological neglect in the child leads to a short stature, whereby the growth retardation can usually be made up again if the environment changes in time. The technical term for this type of neglect is “mental deprivation”. Other psychological causes of short stature include eating disorders and depressive disorders.

How do you determine short stature?

Because there are so many possible causes of short stature, the diagnostic approaches are numerous and varied. First of all, the doctor determines the height of the patient to determine if there is any short stature at all. To do this, he compares the measured value with data from people of the same age.

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

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

  • Measuring the height of parents and siblings to identify a possible familial component
  • Parents were asked whether their puberty development was delayed
  • Look for other symptoms that are typical of chromosomal disorders or syndromic diseases. If there is a concrete suspicion, a targeted molecular genetic examination of the genome is carried out
  • Examination and measurement of the skeleton for any disproportions
  • Physical examination of body and organ function including a blood test to determine a deficiency or excess of relevant hormones
  • Metabolism-specific diagnostics
  • For children: Precise analysis of nutrition and determination of body weight and body mass index (BMI) in order to track down malnutrition, for example
  • In children: assessment of the interaction between parents and child, assessment of the child’s psychosocial situation

These examinations are primarily carried out by the pediatrician or adolescent doctor as soon as there is a suspicion of short stature. In some cases, further evaluation takes place with the pediatric endocrinologist, a specialist in hormonal imbalances in children.

How is short stature treated?

The treatment of short stature depends on its cause. If it’s the result of another underlying condition, doctors try to treat it. However, many forms of short stature cannot be treated at all or only inadequately.

In any case, it is important to recognize short stature as early as possible and to start therapy immediately. The sooner this happens, the better the results. Once the growth plates of the bones have closed, the body length can no longer be changed.

growth hormones

In some forms of short stature, it is advisable to administer artificial (“recombinant”) growth hormones, ie somatotropin or IGF as required. This is the case, for example, when a lack of these growth hormones is the reason for short stature.

The administration of growth hormones is also advisable in many cases for other causes such as Ullrich-Turner syndrome, renal insufficiency or intrauterine short stature. This therapeutic approach may also have a positive effect on idiopathic short stature, but there are no clear studies on this to date.

Psychological care

Under certain circumstances, psychological support for people of short stature and their family environment can help them to better deal with the situation and its challenges.

Affected people can find help from the “Federal Association of Short People and their Families e. V.”, BKMF for short, at: https://www.bkmf.de

Can you prevent short stature?

Short stature is rarely preventable as it is inherent in many cases. However, if there is an underlying disease, short stature can be avoided with early treatment. If there are no familial, genetic or disease-related causes, an adequate and balanced diet and a healthy social environment are essential for healthy body growth.

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