Achondroplasia is an inherited disease which is genetic in nature. It is one of the main causes related to short stature and short limbs. It is a birth defect and the patients suffering from Achondroplasia has an average height of 131 centimeters in case of men and 124 centimeters in case of women. In this genetic disorder, there is an abnormal growth of bone and cartilage. Mutated gene in the parents gets passed to the offspring during the development of embryo and hence leads to a child affected with Achondroplasia.
Achondroplasia is one of the causes of dwarfism as well. The patient suffering from Achondroplasia faces problems like bowed legs, spinal stenosis, shortened legs and arms, decreased muscle tone, spinal curvature, prominent forehead etc. There are a number of causes associated with Achondroplasia.
Top Causes of Achondroplasia
Achondroplasia is a condition which is caused due to genetic mutation. FGFR3 is the gene which codes for the protein helpful for maintaining the tissues in brain and bones. Mutation in this gene leads to limitation in the bone formation from cartilage. FGFR3 stands for fibroblast growth factor receptor and is located on chromosome no. 4.
Inheritance is also one of the causes that may cause Achondroplasia. In inheritance, the disease is passed to the new born from parents. Parents who are suffering from Achondroplasia pass this mutated gene to the offspring.
If only one parent is suffering from Achondroplasia, there is a fifty percent chance that the child would inherit the mutated gene but if both the parents are affected with the disease, there is one in four chances that the gene is passed to the child.
It has been found that around twenty five to thirty percent of children suffering from Achondroplasia experience neurological impairment. It occurs when brain stem and spinal cord become compressed. It then causes compression of nervous system in brain, cerebrospinal fluid and spinal cord. This compression thus results in nutritional deficits.
It has been observed by the geneticists that fathers who are older than forty five years of age are more likely to have children affected with Achondroplasia.
The children in such cases are likely to suffer from autosomal dominant conditions. But causes for new mutations in the sperm have not been found yet.
Hormonal deficiency is one of the causes associated with Achondroplasia. Deficiencies in certain hormones associated with genetic mutation or injury also result in symptoms of Achondroplasia. Other than this, lack of proper nutrition and diet may also be associated with the causes of Achondroplasia.
It has also been observed that in eighty percent of Achondroplasia cases, it did not result from inheritance but caused due to new mutation in the gene. This is considered to be a spontaneous mutation which occurs during the development of embryo.
This new mutation has been found to occur in egg or sperm cell which then leads to the formation of embryo. It was also found that there is small chance of having a second children affected with Achondroplasia.
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