Genetic Diseases and Disorders By: Alice Gardener, Dyllon Glaze, Allie Gospodareck, and Kyra Palmer

General Questions What is a genetic disorder? When does it form? What can prevent it? Diseases that arise from abnormalities in the genetic material are termed genetic disorders  Genetic disorders form duri ng the beginning process of birth Nothing can truly prevent t he disease/disorder because most of the causes are genetic and depends on the genetics of the offspring parents. 

Down Syndrome What causes someone to get it? When was it discovered? Who discovered it?  Down syndrome is caused by an ext ra chromosome on the 21st pair.  Trisomy 21 is the most common form and is caused by every cell having 3 instead of 2 chromosomes on the 21st  pair. Another form, mosaic down syndrome, is very rare and only affects some of the cells, causing some symptoms to be less intense.  Down syndrome was discovered in the year of 1866. A British physician, John Langdon Down, first recognized the physical features of Down syndrome, named after him.  What are some physical symptoms of down syndrome?  People with down syndrome can have a small head, flattened face, short neck, up-slanted eyes, low-set ears, enlarged tongue and lips, and a sloping under chin. They can also have poor muscle tone, heart or kidney malformations (or both), and abnormal dermal ridge patterns on the palms of the hands and soles o f the feet. All people with down syndrome have some form of intellectual disability as well

Dwarfism How did scientists discover this? How can this be passed down? Who is most likely to get this? Dwarfism is a medical disorder in which a person or animal or plant is much smaller than its normal size. It can be caused by over 200 different medical conditions. It was discovered in 1967 by famous French pediatrician, Pierre Maroteaux. Postnatal inhibition of growth may be caused by heredity if both parents are short; there is no skeletal abnormality at fault. Other short-statured children may simply mature at a much slower rate, yet grow normally. Typically, one of the parents may have had a late onset of puberty. Unusually short-statured males are those who are shorter than sixty inches tall; in females, fifty-eight inches and below is short-statured. Children are classified as exhibiting dwarfism if their height is below the third percentile for their age. When this is the case, doctors will look primarily to four major causes of dwarfism: an underactive or inactive pituitary gland, achondroplasia (failure of normal development in cartilage), emotional or nutritional deprivation, or Turner syndrome.

Dwarfism (Con) What other effects come with dwarfism? Those with dwarfism tend to have slightly larger heads, though their intellect is not effected Ear infections are common among dwarfism effected people and must be closely monitored to prevent hearing loss

Albinism When might the disorder/disease go away? Where does it form? Albinism affects the person for life, and there is no way to get rid of it.  What would help determine the chances of getting a genetic disorder/disease? Will the disorder/disease change in the future?  Some autosomal recessive OCAs are caused by mutations in the P gene, TRP1 gene, Hermansky- Pudlak syndrome gene, and Chediak-Higashi syndrome gene.  Genetic ancestry could help determine the carriers of the disease (if there are any) and the ones that may be able to pass on albinism.  Albinism is mostly the same for life, but in some cases, the eyes can be affected later in life

Works Cited Baldridge, Iona C. and Sharon W., R.N., A.P.R.N., D.N.Sc. Stark. "Dwarfism." Magill’s Medical Guide (Online Edition), 2013. EBSCOhost, proxygsu- scob.galileo.usg.edu/login?url=http://search.ebscohost.com/login.aspx?dire ct=true&db=ers&AN=86194064&site=eds-live&scope=site.  "Down syndrome." Britannica School, Encyclopædia Britannica, 20 Jun. 2014. school.eb.com/levels/middle/article/Down-syndrome/544405. Accessed 2 Mar. 2018.  "Genetic disorder." Britannica School, Encyclopædia Britannica, 17 Aug. 2016. school.eb.com/levels/middle/article/genetic-disorder/274517. Accessed 2 Mar. 2018.