Ellis-van Creveld Syndrome: Genetic Study, Prevalence, and Reduction

This paper examines Ellis-van Creveld syndrome, a rare genetic disorder prevalent among the Amish due to genetic isolation and the founder effect. The syndrome, characterized by dwarfism and other symptoms like irregular fingers and congenital heart diseases, shows significantly higher prevalence rates among the Amish compared to the rest of the world. The founder effect, resulting from the isolation of a small group from a larger population, leads to decreased genetic variation and increased chances of inheriting poor characteristics. While the Amish's conservative beliefs limit genetic testing, their isolation also shields them from certain diseases common in the broader population. The study concludes by referencing research indicating lower rates of specific cancers among the Amish compared to other Americans.

Running head; Ellis-van Creveld Syndrome 1
Ellis-van Creveld Syndrome
Student’s name
Institutional affiliation

Ellis-van Creveld Syndrome 2
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,

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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 to Superti-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).

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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.