Achondroplasia, also known as dwarfism, is the most common form of chondroplasia. Its characteristic features include a short stature with disproportionately short limbs and a prominent forehead. The frequency of achondroplasia is not well-documented but is believed to occur about once in 15,000 to 40,000 births.
Instructions
1. Get genetic counseling. The gene for achondroplasia is an autosomal dominant trait which means a child has a 50 percent chance of having this disorder if one parent has the trait on one allele. All offspring of a parent with the trait for achondroplasia on both alleles will have this disorder.
2. Examine the gene located at band 4p16.3. This gene controls the production of fibroblast growth factor receptor-3 (FGFR3) which causes achondroplasia when produced in excessive amounts.
3. Identify specific mutations that cause achondroplasia. While this disorder may be inherited, 75 to 80 percent of these cases arise as new mutations. The G1138A and G1138 mutations account for approximately 99 percent of all the mutations that cause achondroplasia with the gene identified in Step 2.
4. Test for rare mutations that cause achondroplasia. The mutation known as Lys650Met causes Severe Achondroplasia with Developmental Delay and Acanthosis Nigricans and another mutation for achondroplasia called Gly380Arg has been identified in Spain.
5. Have children at a younger age if you are male. Advanced age has been identified as a risk factor in the FGFR3 mutation for males, suggesting that it may result from errors that occur during spermatogenesis.
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