What are the Causes, Symptoms and Treatment of Achondroplasia

Achondroplasia is a disease related bone leading to abnormal development of bones in the human body. This results from irregular development and growth of cartilage. On average, every 1 in 20,000 children suffering from this disorder. This occurs in people of all races. This leads to dwarfism. The typical height of a man suffering from this ailment hovers around 131 cm, while females grow to 123 cm.

Causes of Achondroplasia


Achondroplasia related bone disorder is associated with genetic and chromosomal abnormal operation. A particular gene on chromosome 4, the name of the FGFR3 receptor or fibroblast growth factor is responsible for causing this disease. In some cases, a child may inherit the disease from parents suffering from the threat. However, in most cases, a new mutation of the gene can lead to disease in the body of the victim. In the case of an inherited disorder called autosomal dominant.

People who suffer from this ailment, you usually get a normal copy of the FGFR3 gene, together with a mutant version. If there are two parts of the mutant FGFR3 gene, the consequences could be fatal. A single copy of the mutated gene leads to the appearance of the disease in children. Therefore, the possibility of a victim of achondroplasia of transmitting the disease to the baby is 50%. However, if both parents suffer from this disease, there is 25% chance that the child may die immediately after birth. The child most likely is that you can inherit the disease if both parents suffer from this disease. His chances of leading a normal life is only 25%.

Symptoms of Achondroplasia


As a matter of fact, achondroplasia becomes noticeable right from the birth of a child. A child with the disorder have a normal upper body but his arms and legs are shorter than normal. You also get a bigger head and forehead. Two other major signs of this disease are low muscle tone and slow motor movement. The presence of the former makes the child can not walk before the end of 2 or 3 years. Due to the deficiency in height, often fat accumulates in the body of the patient and the situation worsens. Due to abnormal development of the skull some children suffer from ear infections. To cure this abnormal development of the bones of some children, the tubes are placed in the ears to help drain. Again, because of the asymmetrical pattern of the skull, teeth do not grow properly and maintain oral hygiene becomes a sensitive issue. Often, an analysis of the skeleton can be applied to determine the incidence of this disorder. Some of the victims of achondroplasia can also get double the joints due to the structure of severely deformed bones.

The child may inheriting the disease from parents. But in most cases the gene mutation that causes. There are two related syndromes. They are known as thanatophoric dysplasia and hypochondroplasia.

Achondroplasia Treatment


Unfortunately, the threat of achondroplasia can not be cured. Prevention is the only cure. In general, prenatal ultrasound is used to detect the presence of the disease before the birth of a child. Often, a DNA test can be performed to detect the symptoms of a genetic malfunction. Sometimes surgery can be implemented to increase the height of a victim. However, this is not an easy process and can be painful too. The use of growth hormone are not effective in the treatment of victims of achondroplasia.