Achondroplasia Research Paper

achondroplasia (ACH) Achondroplasia (ACH) is a very rare (fewer than 20,000 US cases per year) yet the most common (occurring at one in every 15,000 to one in 40,000 live births) hereditary form of short-limbed dwarfism. Achondroplasia can be inherited from a parent with the disease, however most cases of ACH are because of new mutations in the FGFR3 gene. (Over 80% of people with ACH have parents who are unaffected).

Muscular dystrophy is when your muscles wear away and don’t really ever come back. In the same article it says that “Muscular dystrophy occurs in both genders and can strike at any age. However, Duchenne muscular dystrophy in the most common form and is most likely to occur in young boys.”(Tim Newman) Many people who have this genetic disorder usually walk on their toes and have trouble walking in general.

I observed a four year old girl that was tiny for her age. She worked on proprioceptive and vestibular input like the other children. One major difference is that her condition has not been diagnosed. The doctor suspect a chromosome issue, but her family has not gone for additional testing. Although she can recognize shapes, colors, and letters, she is still delayed.

When a disorder runs in the family, the parents want to know the chances of their offspring having the disorder (GHR). This can be difficult to predict in some cases because many factors influence a person’s development of their genetic condition. It is a random mutation that occurs in the chromosome pairs before birth. Gene mutations Gene mutations can vary from different disorders which may have expanded

French physician, Antonie Marfan, discovered this disease in a 5 year old girl. The child had extremely long/thin fingers and arms that resembled a spider. Marfan’s patients shared some things in common. They all had long/thin arms and fingers, they were all thin, and they all had a tall height.

About one in every 33 babies in the United States is born with a birth defect. A birth defect, according to Kids Health, part of the Nemours Foundation’s Center for Children’s Health Media, is defined as abnormalities of structure, function, or body metabolism that are present at birth. It’s said that birth defects are one of the leading causes of infant death in the first year of life. Birth defects can range from mild to severe. MedlinePlus, The National Institute of Health’s website says that babies with birth defects may need to have surgery or other medical treatments.

Later it was discovered that it was the result of an extra copy of chromosome 21. The nondisjunction that results in an extra copy of chromosome 21 occurs during anaphase I in meiosis I. The genetic mutation is trisomy 21 (3 copies of chromosome 21). The characteristic phenotypic occurrences that are distinct to the disorder: poor muscle tone, stout neck, flat face, small head, mouth, and ears, eyes slanting upwardly, Brushfield spots, and stout fingers and

The cause of this condition is not known. RISK FACTORS This condition is more likely to develop in: • Children aged 3–15 years. • Boys.

Those organs grow out of proportion with other tissues in the body. For Rosnick, the most obvious features impacted by the condition are his fingers. Three on each hand are overgrown, maybe six inches long and the width of an extra-wide thumb.

Down syndrome is a very common genetic disorder. 1 in every 691 kids are born in the United States has it according to the National Down Syndrome Society c. Symptoms of Downs include: mild to moderate mental disability, stunted growth, low muscle tone, and thyroid issues, higher risk for Alzheimer’s and heart failure. (Genetic Disorders Sourcebook, Third Edition) (Transition: Now that you have a better understanding of what Down Syndrome is, let’s take a look at the 2 most common ways Trisomy 21 occurs) II. Although there are more than two ways to acquire the extra 21st chromosome that causes Down Syndrome, I’m only going to cover the two most common.

Genetic disorders booklet: polydactyly Q. Who first discovered the genetic disorder? How was it discovered? A. Tyler Steven Hayden was the one who discovered the disorder.

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This syndrome is caused by a deletion of chromosomes 15, however AS can be inherited through genes. (Charles Williams, 2015) Due to its rareness research is still being gathered. Angelman syndrome is a rare condition and

Fibrodysplasia Ossificans Progressiva which is sometimes referred to FOP is a very rare genetic disorder in which bones grow uncontrollably to the point of causing disability (Fibrous Dysplasia). As one of the rarest and most disabling diseases, FOP causes bone to form in and over muscles, tendons, ligaments, and other connective tissues (What is FOP). Bridges of this extra bone develops across joints which causes immobility (What is FOP). These bridges also create a second skeleton that imprisons the body in bone.

The frequency of getting affect by Klinefelter syndrome is 1in 500 to 1,000 newborn males. Klinefelter syndrome isn’t inherited but occurs as random event during the formation of reproductive cells in a parent. SYMPTOMS AT BIRTH AND CHILDHOOD Birth: Small Penis Undescended