Achondroplasia

Definition

Definition of Achondroplasia
Achondroplasia is a bone related ailment that leads to anomalous development of bones in the human body. This stems from irregular development and growth of the cartilages. On an average, every 1 child out of 20,000 suffers from this disorder. It happens in people from all races. This leads to dwarfism. The typical height of a man suffering from this ailment hovers around 131 cm, while the women grow up to 123cm.

Symptoms

Symptoms of Achondroplasia
As a matter of fact, Achondroplasia becomes noticeable right from the birth of a child. A kid suffering from the disorder has a normal upper body but his legs and arms are shorter than usual. He also gets a bigger head and forehead. Two other major signs of this ailment are low muscle tone and slow motor movement. The presence of the former makes the toddler unable to walk before he completes 2 or 3 years. Due to the deficiency in height, fat often accumulates in the patient’s body and worsens the situation. Because of the anomalous skull development some children suffer from middle ear infections. To cure such abnormal bone developments of some children, tubes are placed in their ears to aid in drainage. Again, due to the asymmetrical skull pattern, the teeth are not grown properly and maintaining oral hygiene becomes a tricky issue. Often, a skeletal analysis can be implemented to ascertain the occurrence of this disorder. Some victims of achondroplasia may also get double joints due to the severely deformed structure of bones.

The childmay inherit the disease from the parents. But in most cases the mutation of the gene causes it. There are two related syndromes. They are known as thanatophoric dysplasia and hypochondroplasia.

Causes

Causes of Achondroplasia
The bone related disorder Achondroplasia is linked with abnormal genetic and chromosomal functioning. A particular gene placed on chromosome 4, named FGFR3 or the fibroblast growth factor receptor is responsible for causing this disease. In some cases, a kid can inherit the ailment from the parents suffering from the menace. But, in the majority of the situations, a fresh mutation of the gene can lead to the disorder in a victim’s body. In the case of an inherited disorder, it is called autosomal dominant condition.

People, who suffer from this ailment, usually get one usual copy of the FGFR3 gene along with a mutant version. If there are two pieces of the mutant FGFR3 gene, the consequences could be fatal. A single copy of the mutant gene leads to the occurrence of the ailment in the child. Hence, the possibility of an achondroplasia victim to transmit the disease to the baby is 50%. However, if both of the parents suffer from this disease, there is 25% chance that the child may die immediately after birth. The Child most likely can inherit the disease if both the parents are victims of this disease. His chances of leading a regular life are only 25%.

Diagnosis

Diagnosis of Achondroplasia
Achondroplasia is diagnosed by characteristic clinical and X-ray findings in most affected individuals. In individuals who may be too young to make a diagnosis with certainty or in individuals who do not have the typical symptoms, genetic testing can be used to identify a mutation in the FGFR3 gene.

Genetic testing can identify mutations in 99 percent of individuals who have achondroplasia. Testing for the FGFR3 gene mutation is available in clinical laboratories.

Prognosis

Prognosis of Achondroplasia
People with achondroplasia seldom reach 5 feet in height. Intelligence is in the normal range. Infants who receives the abnormal gene from both parents do not often live beyond a few months.

Treatment

Treatment of Achondroplasia
Unfortunately, the menace of Achondroplasia can not be cured. Prevention is the only cure. Usually a prenatal ultrasound is used to detect the presence of this disease prior to a child’s birth. Often a DNA test can be conducted to detect genetic malfunction symptoms. Sometimes a surgery can be implemented to increase the height of a victim. However, this is not an easy process and can be painful as well. The use of Growth hormone does not prove effective in treating victims of achondroplasia.

Prevention

Prevention of Achondroplasia
Genetic counseling may be helpful for prospective parents when one or both have achondroplasia. However, because achondroplasia most often develops spontaneously, prevention is not always possible.