Online Consultation

Free Online


Support AI

Dwarfism (achondroplasia) and Limb Lengthening

On This Page (Contents)

What Is Dwarfism? Why Does It Occur?

Dwarfism, which has been widespread among people since the past years, is usually neglected as a health problem by the society. In general, dwarfism, which the society considers as a tax and does not count as a health problem, is actually a health problem. Before the causes and symptoms of dwarfism, it is necessary to know exactly what dwarfism is.

Dwarfism is called Achondroplasia in medical language. Since the development of modern medicine worldwide, many methods for the treatment of dwarfism have been and continue to be attempted. The definition of dwarfism in the literature is referred to as disorders that cause the height of the person to remain extremely short.

Origins and Symptoms of Dwarfism

A person, shorter than other people of the same age, or adults who do not exceed 1 meter in height are called dwarfs. Children can sometimes have delayed growth up to the age of 16. In addition, growth and developmental defects may also be observed in the course of certain diseases, such as diabetes, congenital heart disease and kidney disease. There are different types of dwarfism. Commonly called primordial dwarfism, the baby is smaller at birth. The ratio of head, body, arms and legs to each other is normal. Short stature is evident when the child lags behind his peers. Bone age is normal. Sexual development is complete. Congenital heart disease and mental retardation can be found in some cases.

The cause of dwarfism is unclear, and growth hormones are ineffective in these cases. The closure of the epiphyses of the long bones is delayed and the dwarfism is recognized when the child is 3 years old. Head is large, the root of the nose is collapsed. Growth hormone is not secreted for some reason. In some cases, the coexistence of other hormones (signs of hypoglycemia and hypothyroidism) and dwarfism originate from the pituitary. If it is diagnosed early and correctly, it may be possible to prevent dwarfism by administering growth hormone (Asellacrin).

Fröhlich syndrome is a rare disease caused by a cyst at the base of the brain, which is associated with obesity, short stature and sexual retardation. In addition to these symptoms, Lourence-Moon-Biedl syndrome is a hereditary autosomal disease with mental retardation, eye disorder (retinitis pigmentosa) and synaptic symptoms (syndactyly).

There are other reasons apart from hereditary aspects of dwarfism. Achondroplasia is a type of hereditary dwarfism caused by disorders in the FGFR3 gene. This gene; carry the knowledge of proteins necessary for bone development. Achondroplasia; It is a disease in which bone development abnormalities occur and occurs approximately every 20,000-30,000 live births. This genetic disorder results from a mutation in the fibroblast growth factor receptor 3 (FGFR3) gene.

Achondroplasia occurs in approximately 80% of patients as a result of a subsequent mutation (non-hereditary). The remaining 20% of the patients received this mutation from their families. This genetic disease; It is characterized by an abnormally large head, short arms and short stature (about 1 meter). Typically, acondraplasia does not cause impaired mental abilities. If the bones do not put pressure on the spinal cord or brain stem, life expectancy is normal. In achondroplasia, the mutation in the FGFR3 gene leads to the production of excess protein, which leads to abnormal bone development.

Most patients do not have this disease in their families. High father age may be an important factor for spontaneous acondroplasia. Less commonly, familial cases of acondroplasia are inherited in an autosomal dominant fashion. Dominant genetic diseases occur when only an abnormal copy of the gene is obtained from one of the parents. The abnormal gene may be inherited from the parent, or acondroplasia may be the result of the mutated gene in the affected individual. The affected parent has a 50% chance of transmitting the abnormal gene to her child during each pregnancy. This risk is the same for women and men.

Achondroplasia affects men and women equally. This disease begins in the developing fetus and is one of the most common forms of skeletal dysplasia that causes dwarfism. While the trunk is of normal size, the arms and legs are abnormally short and the head is larger than normal. Problems that arise during the formation of a human bone can be one of the causes of dwarfism. It can also cause dwarfism in problems that arise during the development of bones. In addition, it is observed that growth hormones are damaged or deficient in dwarf people.

It is known that dwarfism is a problem because the damaged growth hormones cannot produce the effect-response required for the growth of the body. In addition, hemorrhage or trauma of the pituitary gland is one of the main causes of dwarfism. In some dwarf people, it is observed that various tumors cause dwarfism. Again, the pituitary gland tumors have been observed to inhibit or slow down growth hormone secretion.

In some people, the congenital anterior pituitary gland does not secrete enough growth hormone. The reason for this cannot be determined at present, but it is thought that the marriage of relatives and the pregnancy of the woman in the elderly have an effect. Tumoralkalites in the pituitary gland also inhibit the secretion of growth hormone, so make sure that you see a doctor who has noticed that growth has stopped or progressed slowly. These tumors, which are often benign, are sometimes malignant and can spread to surrounding organs and cause cancer. Here you can find details about pituitary tumor. Other causes include pituitary gland trauma and continuous pituitary gland bleeding.

The clinical and radiological features of achondroplasia are well characterized. Generally, these typical findings do not require molecular genetic testing to confirm the diagnosis. When suspicious clinical findings are seen in newborns, X-ray findings help to diagnose. However, in the event of uncertainty, identification of genetic mutations in the FGFR3 gene by molecular genetic testing may aid in diagnosis.

General symptoms; short length, short arms and legs, short hands and fingers, dislocated forehead, dislocated abdomen and hips (due to the inclination of the spine). Symptoms observed in newborns; The dome-shaped skull is very broad and the forehead. A small percentage of patients also accumulate excessive fluid around the brain (hydrocephalus). Muscle weakness in newborns is also a typical feature of achondroplasia.

dwarfizm achondroplasia symptoms wannabetaller


There is no definitive treatment of the disease, but some applications can be made to alleviate the symptoms. The aim of treatment is to maximize functionality and independence. Most dwarfism treatments do not increase height, but they can correct or alleviate problems caused by complications. When hydrocephalus is detected by CT or MRI, surgery is necessary.

In this disease, common otitis media can be relieved with antibiotics. Growth hormone administration for short stature can accelerate development, but the effect of hormones decreases over time. Regular vaccination is also required throughout life. In the long term, they have a normal life span. However, the risk of death in the first year of life is slightly higher than in healthy newborns. In addition, the risk of having a heart attack increases later in life.

The aim of the dwarfism treatment is to correct the deformities and increase the height of the person at least to the lower limit of the normal height in the society. The arms are extended and corrected in a separate session.

The first 1-2 years after the age of 5 is very important. During this period, the healing potential of bones is very good. With the help of limb lengthening surgery, bones in the arms and legs are lengthened with external fixator. This first session consists of two operations. Depending on the patient’s problems, both femurs or both tibia are prolonged. It highly varies from patient to patient, but on average, a total height increase around of 10-15 cm is obtained by lengthening femurs and tibia.

During limb lengthening surgery, bone curvatures should be corrected and bones should be brought to the required proportions. The second limb lengthening surgery is done between 10 and 11 years of age. At this stage, long magnetic extension rods can be used to extend the femur up to 6-8 cm. Additionally, both tibia are extended by 5-7 cm and the lengths of the femur and tibia are proportional. Arm lengthening surgery can also be performed in this age group.

In achondroplasic children, two bones on the same side (femurs and tibia) are not extended at the same time. Although such treatment has been used in the past, it is not preferred by many doctors because of its disadvantages. Simultaneous extension of two bones on the same side inhibits growth plaques and is thought to hinder the child’s natural growth potential.

The complication rate is very high in normal lengthening operations before the age of 5 years (inhibition of growth plates, infection, emergence of new curvatures during elongation, etc.). For the first lengthening operation, the child should be expected to reach 5 years of age.

Limb lengthening surgeries for patients with achondroplasia are performed in many parts of the world. However, in countries such as USA, Germany, UK or France, the cost of this operation may exceed the budgets of the majority. However, limb lengthening in Turkey might be a logical choice due to much better price and also quality of doctors, hospitals and services.

Get Information

Form Submitting...

You will be informed about the lengthening increase, lengthening process, the prices of the surgical methods, the difference of the methods, the risks of the surgery.

Leave a Reply

You May Also Like

WannaBeTaller AI Assistant X

Hello, I am the world's first limb lengthening surgery assistant, created by the first limb lengthening facility in Turkey (Wanna Be Taller). Feel free to ask me anything about limb lengthening surgery.

This conversation is being conducted with an artificial intelligence model. The responses provided by the artificial intelligence are intended for general informational purposes and are not legally binding. To obtain precise information, please contact the patient consultant.