Achondroplasia means "without cartiage formation". Cartilage is a tough but flexible tissue that makes up much of the skeletion develpment. This disorder caused by mutation in the gene on chromosome 4 This gene FGFR3 codes for a protein called fibroblast growth factor. This protein is located on the cell surface of certain tissues and responds chemical growth signals that stimulate cell maturation and this causes the gene dysfunctional version of the protein to disrupt growth
There are genetic test that are available for people who have achondroplasia, but this test may not even be necessary. If patient is suggested to take a test its only to distinguish among possible diagnoses when its not clear in family history.
The medical care for achondroplasia: Somatotropin has revolutionized the treatment of short stature. Growth hormone is currently being used to augment the height of patients with achondroplasia. The greatest acceleration in growth is seen in the first year of treatment. There hasnt been a long term study to determine the final height for the treatment.
In most cases of achondoplasia it isnt inherited but when it is its in an autosomal dominant manner. Over %80 of individual who have achondroplasia have parents with normal stature and are born with achondroplasia as a result of new gene alteration .