Achondroplasia is described as dwarfism. It makes up 80% of people with growth hormone deficiencies.
This disease is caused by a mutation in the Fibroblast Growth Factor Receptor 3 gene.
This protein involved in development and maintenance of bone and brain tissue. It is believed to be overactive. Mutation of this protein interferes with development of the skeleton and causes bone growth disturbances.
Achondroplasia occurs at a global rate of about 1 per 15,000 - 40,000 births. Scientists have been unable to narrow possibilities any further.
There is no evidence pointing particular race seems being more affected than any other. Some populations have higher or lower incidence rates for unknown reasons. E.g. 1 per 64,000 births in Denmark and 1 per 10,000 in Latin America. The incidence rates of achondroplasia occur relatively equal in males than females.
Achondroplasia can be traced to both heredity and a mutation in the Fibroblast Growth Factor Receptor 3 gene. The chance of getting achondroplasia, in which one parent has it, is 50% per pregnancy. When both parents have achondroplasia there is a 25% chance of a normal child and a 50% chance of the child having achondroplasia. There is also a 25% chance that the child will receive the gene mutation from both parents, called homozygous achondroplasia. This disease leads to death, most children live no more than a few months.
Achondroplasia is diagnosed through clinical testing and x-ray screenings. Younger people and people who do not show symptoms can get genetic testing.
There is no cure for achondroplasia. Children can be treated with growth hormones to help with overall bodily growth. Surgeries such as joint replacement and sleep apnea can be done in adults to help with side effects of the disease.
People with this disease can live a normal life with the only hindrances being of short stature and some other minor physical ailments (such as sleep apnea and a faster wear on joints).
Current research into this disease include ways to cure the disease in early childhood, such as using growth hormones, and treatments that can be performed on older people.
Citations
“achondroplasia.” Genetics Home Reference, 2017, ghr.nlm.nih.gov/condition/achondroplasia#sourcesforpage. Accessed 4 Feb. 2017.
“Achondroplasia.” National Center for Advancing Translational Sciences, 2016, rarediseases.info.nih.gov/diseases/8173/achondroplasia. Accessed 4 Feb. 2017.
“Genetic Defect for a Type of Dwarfism Is Found.” New York Times, 31 July 1944, p. 1. The New York Times, www.nytimes.com/1994/07/31/us/genetic-defect-for-a-type-of-dwarfism-is-found.html. Accessed 4 Feb. 2017.
“Learning About Achondroplasia.” National Human Genome Research Institute, 15 July 2016, www.genome.gov/19517823/learning-about-achondroplasia/. Accessed 4 Feb. 2017.
Petit, William A., Jr., M.D., and Christine Adamec. The Encyclopedia of Endocrine Diseases And Disorders. E-book, Facts on File, 2005. Facts on File Library of Health & Living.
Image Citations
"Frontal X-Ray." Radiopaedia, 2017, radiopaedia.org/cases/achondroplasia-2. Accessed 4 Feb. 2017.
"Chromosome 4 (human)." Wikipedia, 2017, en.wikipedia.org/wiki/ Chromosome_4_(human). Accessed 4 Feb. 2017.
"Autosomal Dominant." Dwarf Parents, 2017, dwarfparents.com/chance-having-dwarf-child. Accessed 4 Feb. 2017.