Ellis-van Creveld Syndrome: Prevalence and Founder Effect among the Amish
Verified
Added on 2023/06/03
|4
|763
|448
AI Summary
This paper discusses the high prevalence rates of Ellis-van Creveld Syndrome among the Amish people, the symptoms associated with the disease, prevalence rates as compared to the rest of the world, and an explanation of the high prevalence rates in evolutionary terms.
Contribute Materials
Your contribution can guide someone’s learning journey. Share your
documents today.
Ellis-van Creveld Syndrome2 Ellis-van Creveld syndrome also known as mesoectodermal dysplasia is a rare genetic disorder that is commonly found among isolated communities in the world such as the Amish people in America. The disease is said to develop as a result of isolation of a group of people from the rest of the population such as the Amish who are both culturally and genetically isolated Weller, (2017). This paper focuses on the Ellis-van Creveld syndrome (dwarfism) disease among the Amish people, prevalence rates as compared to the rest of the world, a brief explanation of the high prevalence rates in evolutionary terms and an explanation into how the Amish might be able to reduce incidence of the dwarfism disease. The dwarfism disease is often associated with several symptoms such as irregular number of fingers and toes, congenital heart diseases which are found to be occurring in most infected individuals, presence of teeth at birth, cleft palate and short limbs among other characteristics (Nazemisalman, Salah, Vahabi, & Nabtieh, 2017). The prevalence rates of this disease are higher among the Amish than in any other population around the world. All over the world about 40 cases of adult population with the disease have been reported. There might be more due to the likelihood of undocumented cases. There is no clear information however on comparison with the rest of the world population but researchers have argued that they comprise 80% of the world population with the Ellis-van Creveld syndrome which means that roughly 30-32 individuals are from the Amish origin. The number remains relatively low due to neonatal deaths and high infant mortality among children infected with the disease. In a research conducted over a period of one year among the Amish population, 52 births were recorded and only 22 children had survived by the end of one year(Almutairi, 2015). The high rates of infection among the Amish people can be explained and discussed using the evolutionary theory and more specifically the founder effect. The founder effect,
Ellis-van Creveld Syndrome3 manifests itself as decrease in genetic variation due cutting off a few members from a bigger population to form another population. Following this premise, a completely different population may be formed. This population differs from the rest in both the genotype and the phenotype. The health risks associated with the founder effect is that there is high sensitivity and increased chances of genetic drift and low genetic variation due to inbreeding which leads to inheritance of poor characteristics. According toSuperti-Furga, & Unger, (2017) the founder effect is likely to be the main cause of the increased rates of the dwarfism due to the fact that the Amish people are cut off from the rest of the world both culturally and genetically. The Amish are also conservative in the sense that they don’t believe in genetic testing to discover genetic disorders or screening of unborn children to discover these genetic disorders. In conclusion, while this is perceived to pre dispose them to various health risks, it might also be of certain advantages to them since it shields them from majority of diseases already existing in the larger population for example cancer. A study has revealed that the Amish are less likely to have certain cancers at a younger age than ordinary Americans(Almutairi, 2015).
Ellis-van Creveld Syndrome4 REFERENCES Almutairi, A. (2015). Buggy Safety In Amish Community.International Journal of Scientific & Technology Research,4(8), 208-210. Nazemisalman, B., Salah, S., Vahabi, S., & Nabtieh, A. (2017). Oral Ellis-van Creveld Syndrome: A Brief Review of Literature and A Case Report.Journal of Dentistry and Oral Implants,1(4), 1. Superti-Furga, A., & Unger, S. (2017). Genetic disorders of bone–An historical perspective.Bone,102, 1-4. Weller, G. E. (2017). Caring for the Amish: what every anesthesiologist should know.Anesthesia & Analgesia,124(5), 1520-1528.