Associated symptoms

The symptoms contained in a genetic syndrome can be very diverse and depend on the underlying cause of the disease. In achondroplasia, in addition to disproportionate growth degeneration, spinal canal stenosis often occurs. Other changes in the spine include increased thoracic kyphosis and lumbar lordosis.

In addition, leg malpositions also occur, e.g. x- or bow legs. A sunken nose root and a reduced expression of the midface cause a very prominent forehead. In addition, these people tend to have an increased susceptibility to infections of the upper respiratory tract and the middle ear.In osteogenesis imperfecta, many fractures occur due to the brittleness of the bones, even with minor trauma such as a fall from a low height. In addition, hearing loss and a blue discoloration of the leather skin of the eyes can also occur.

Does small growth change life expectancy?

Basically, dwarfism is a reduced growth of body length, which has no effect on the lifespan. Especially in the case of familial dwarfism, one assumes a life expectancy equal to that of the normal population. If dwarfism is a sign of another chronic disease, the life expectancy of this disease must be taken into account.

If, for example, there is a severe heart defect, it is likely that the life expectancy of this person is more limited. The same applies to severe forms of malnutrition and toxic damage during pregnancy caused by smoking, drugs and alcohol. Many hereditary syndromes (hereditary) and osteogenesis imperfecta (brittle bone disease) are also associated with reduced life expectancy.

It should also be mentioned that some disproportionate forms of short stature are associated with unphysiological stress on the joints with premature wear. All in all, it can be said that a diminished life expectancy is not to be primarily assumed due to a diminished growth. The individual reason for dwarfism is decisive for the prognosis.

Diagnosis

The diagnosis of short stature is usually made by the pediatrician. In the course of the child’s development, there are various legally prescribed preventive examinations. For these, the weight and also the height of the child is recorded in the child’s examination booklet.

This results in a developmental curve and a growth and weight curve that can be compared with other children. In case of an atypical course, for example, if the weight remains the same or the growth rate slows down, the doctor should carry out further examinations to find the cause. These include further measurements to determine the proportionality of growth (body proportions), but also other examinations, e.g. laboratory tests to detect hormone deficiencies or nutrient deficiency conditions, for example.

Depending on the patient’s symptoms, other and further examinations may also be necessary, e.g. gastroenterological in the case of admission disorders or genetic, if there is evidence of a genetic disease.

Important for the expected body size determination in adulthood is the body length of the biological parents. The genetic target height is calculated by the body length father + mother2 and then + 6.5 cm for the boy and -6.5 cm for the girl.
An X-ray of the left hand is then taken to calculate the age of the bone based on the bone maturity stages.
Sitting also determines the proportions of the body.
In addition to these tests, it is also useful to examine certain laboratory parameters in the blood, for example to determine the hormone status.

Already prenatally in ultrasound, the gynecologist observes the growth and proportionality of the child’s physique throughout the entire pregnancy.

After the birth, the growth of body length, weight and head circumference is recorded at regular intervals by the pediatrician during the check-ups using percentile curves. Such records of growth must be kept over a longer period of time. Therefore, a meaningful assessment can only be made after about two years. The bone age, normally determined radiologically on the left hand, is preferably examined in the first year of life by means of an X-ray examination of the left knee and compared with the biological age.