The news that their baby will be born small is initially frightening for many parents. Yet in Germany alone, up to 100,000 people are short in stature. The average height of men and women who are short is 1.50 meters.
People with achondroplasia are small in stature – and can very well have a literally great life. Learn all about short stature in this article.
Table of contents
When A Child Is Born Small In Stature
Achondroplasia or chondrodysplasia is the most common form of short stature. In this extremely rare genetic mutation, the upper arm and thigh bones in particular are usually shortened. There are no therapies available yet.
However, you have the possibility to have a therapeutic treatment carried out if there are complaints due to the dwarfism: back pain, paralysis, and other symptoms often go hand in hand with dwarfism. In most cases, however, these can be treated medically.
While it was once thought that the life expectancy of males and females with achondroplasia was lower, experts now agree that short stature does not adversely affect the length of a person’s life.
Short Stature Is A Hereditary Disease That Can Be Detected At An Early Stage
It is possible that achondroplasia occurs either spontaneously or it is inherited from a parent affected by short stature. Already during pregnancy it is possible to find out whether the unborn baby shows corresponding physical changes.
The hereditary disease is not harmful in itself. However, it is possible that, due to the altered growth of the bones, symptoms may develop over time that requires treatment. This article shows whether there are ways to prevent achondroplasia and what you can do if your child is short.
How To Recognize Short Stature
The typical symptoms of achondroplasia include:
- A short height.
- The average height of a woman with achondroplasia is about 112 to 138 cm.
- The average height of a man with short stature is 118 to 143 cm.
- Shortened upper arms.
- Shortened thighs.
- Trunk size is usually unchanged.
- Altered body proportions.
Symptoms Of Short Stature
- A high forehead.
- Very narrow face.
- Relatively large head (sometimes hydrocephalus or water head).
- Small nasal bone, the root of the nose appears slightly sunken.
- Short fingers.
- Shortened upper arm with partially incomplete formation of the elbows.
- Short distance between little finger and ring finger.
- Change in the lumbar spine to a hollow back.
- Bow legs.
- Waddling gait.
- Belly arched forward.
Due to the sometimes very clearly recognizable bone structure or growth changes in people with AAchondroplasia, it is possible that health impairments will result.
In most cases, these have to be medically treated or specifically treated in the long term. Thus, over time, significant back pain occurs, as well as hip joint and knee pain.
Moreover, due to the arched abdomen, the short steps, and the slightly swaying upper body, it is conceivable that the spine will become deformed over the years. Sometimes paralysis symptoms occur due to this.
This is mainly due to the fact that the movements exert an almost constant pressure on the sensitive nerves in the spinal canal or vertebral canal.
When Your Baby Is Short
Even as a baby, affected persons often suffer from low blood pressure. In addition, a comparatively low muscle tension is noticeable. Newborns with dwarfism are often diagnosed with apnea, and the frequent pauses or pauses in breathing can be extremely frightening for parents.
In infants who are short stature, motor development is delayed. However, this aspect does not affect the intelligence of the children.
What Is Achondroplasia And What Are The Triggers?
The term achondroplasia borrows from Greek and loosely translates to lack of cartilage formation. A segment of the FGFR-3 growth gene (Fibroblastic Growth Factor Receptor) is pathologically altered, so that the cartilage cells are successively supplied with defective growth signals.
Whereas cartilage is initially formed in the growth zone of normal people, which is subsequently converted into bone substance, the situation is different in a midget.
In a midget, the cartilage cells in some bones ossify much too early. As a result, the respective bones grow more slowly overall and also remain shorter than in a healthy person.
These abnormalities primarily relate to the upper arm and thigh bones. If you look at the lower legs, you will notice that the inner tibia is significantly shortened compared to the fibula.
If your baby is diagnosed with achondroplasia – in most cases an examination can be performed before birth – medical treatment is not necessarily required. Rather, it is sufficient if you attend the regular preliminary examination appointments after the birth of your child.
Note
In some cases it is possible to change the body size. However, this is only possible through surgery. Experience has also shown that the administration of growth hormone preparations has only a slight positive effect on the overall growth of the child.
Consequently, the later average height in women or the average height in men is not significantly changed.
The Causes Of Achondroplasia
- Hormonal changes or disorders in one or both parents.
- Deficiency or malnutrition during pregnancy. Pay attention to the correct nutrition during pregnancy.
- Change in hereditary factors / genetics.
- Metabolic disease.
- Tumor diseases (mostly brain tumor).
Note
It is very possible for small-sized parents to give birth to a normal-sized baby. In addition, it happens that normal-sized parents give birth to a small-sized baby.
The Concern Of Parents
Mothers and fathers whose child will be born small are often aware of the fact that their little treasure will still have to struggle with sometimes considerable problems in adulthood. Those affected repeatedly encounter massive problems and obstacles.
This already begins in early childhood. No matter whether it is about the use of everyday objects or the daily choice of clothing. Bullying in kindergarten and at school is also a very stressful issue.
Many children with achondroplasia feel excluded and often have very low self-confidence as a result. Therefore, mothers and fathers who have a child who is small should build his or her self-confidence from the very beginning. The more self-confident the child’s personality, the easier it will be for them to deal with discrimination and exclusion.
Good To Know
If you are not sure how to best support your child, you have the option of contacting an educational or youth counselor. They can give you valuable tips on how to support and strengthen your child and make him or her a happy person.
You can also contact your midwife. She will help you find suitable counselors in your area.
Can Size Already Be Influenced In Infancy?
If their baby is small in stature, many mothers and fathers think about having a surgical procedure performed to enable their treasure to lead a largely normal life. Sometimes it is indeed possible to take such a step.
However, the effort is considerable and the child has to endure a long and rocky ordeal. Changes to the bone structure are extremely painful and also require long-term pre- and post-treatment.
At the same time, there is a very high risk that your child might have to struggle with pain or health impairments even in adulthood – as a consequence of the operation. In fact, leg and arm extensions, etc. are extremely risky and dangerous.
Callus Distraction
Surgical lengthening of the legs can certainly bring good results under certain conditions. Especially, if in the course of this also possible leg malpositions are corrected. During leg lengthening, the bone is cut and fixed.
With regard to the type and extent of the leg position, a metal frame is connected to the bone, or a nail is implemented into the bone marrow cavity. This device can be temporarily adjusted and individually regulated after the operation.
Consequently, the leg is slowly pulled apart, with additional stimulation of bone growth with the help of growth hormones. By holding the severed bone parts apart, new bone – the callus – can form. It takes the body about four weeks to make a single centimeter of bone.
While the blood vessels and nerve tracts adapt to the artificial bone growth, this is only the case to a limited extent for the tendons and muscle cords. Experience shows that the legs of short stature patients can be lengthened by up to 30 cm, which takes up to 24 months.
Stabilization Of The Spine
Due to the bone changes in achondroplasia, massive movement restrictions can occur in the course of childhood as well as especially in adulthood. Paralysis and severe pain also often accompany it. Spinal stabilization can help regulate the movement restrictions.
ENT Surgery
Affected individuals often struggle with middle ear or sinus infections during childhood. This is due, among other things, to the deepening of the nasal root and the altered bone structure in the nasal area.
In order to provide your child with optimal ventilation of the hearing and olfactory organs, the specialist can perform corrective surgery.
Conclusion
In most cases, it can be determined in the womb whether a child will be born small. If this is the case, it is good that mommy and daddy are well prepared.
It is important that you give your child a lot of love and attention. Also, make sure to build up your offspring’s self-confidence right from the start so that he or she can master all the challenges that life has to offer with confidence and strength.
Sources
https://www.hexal-elements.de/serviceartikel/docs/Patientenbroschuere_SGA_dt.pdf
