Achondroplasia

Achondroplasia Altoona Midway High School By: Damon Langford Abstract This essay will address the genetic disease called Achondroplasia. The disease will be defined, explain how the disease functions and will also how it feels to live with the disease. It will also address whether the disease is inherited by the parents, or if it is a chromosomal error. Finally, this paper will conclude by providing miscellaneous facts about Achondroplasia that are, or may appear, to be fun. The name of the

Achondroplasia is a genetic disorder in which there is a growth hormone deficiency, or there is a genetic mutation in either the father’s sperm or mother’s egg. (mayo clinic, March 20,2014.) Achondroplasia was the first discovered in ancient Egyptian records. People with achondroplasia were considered people with supernatural powers. Many people call dwarfs midgets but to them, it is very disrespectful because midget literally means little person. Some acceptable names that you can use that will

these are what Ivy Broadhead, a teenager with achondroplasia, have to go through everyday. Ivy was born with achondroplasia, the most common form of dwarfism. It is caused by the presence of two mutant alleles in the fibroblast growth factor receptor-3 (FGFR3). It is a substitution, to be precise, at nucleotide number 1138 in the DNA. This substitution on the DNA level results in a minute change on the protein level. This change in the protein

Achondroplasia is caused by a mutation in the FGFR3 gene which is located on the fourth chromosome. It is an autosomal gene that is dominant that can be passed down by the parents. Most parents of people who suffer from achondroplasia have parents without the disorder, but new mutations constantly arise with the FGFR3 gene. Normally cartilage converts to bone during human development, but people who suffer from achondroplasia are unable to do so with most cartilage in the body. This is mostly due

Dear Patient, I'm sorry to inform you but your daughter has Achondroplasia, a growth condition your child has been born with. 1 out of 15,000 births in the United States experience this condition like your daughter ( National Institutes of Health. (n.d.). The reason this happen is actually unknown, the only way we can see this birth defect happiness is when either your husband's sperm or your egg was effected before she was born. ( Mayo Clinic Staff. (2016, April 03). the Symptoms are twisted elbows

Starting at a young age I always had an interest in helping people in some shape or form. A true interest in the social service field did not come along, though, until middle of my college career with the help of my current profession in foster care. Connecting with people of different education levels throughout school to either help them understand the lecture material or to work with them to problem solve the lecture material together always came easy to me. It was then I knew I have an apt for

Achondroplasia is the disorder that I will be presenting. First, achondroplasia is a form of short-limbed dwarfism. It is where the cartilage it forms into bone instead just being around the bone. There is one gene and chromosome in specific that causes Achondroplasia. The FGFR3 gene and chromosome 4, they are mutated and cause this disorder. Last, there are many symptoms of Achondroplasia. Here are some of the symptoms, the breathing slows or stops for short periods of time, obesity, and recurrent

Definition, Diagnosis and Symptoms Achondroplasia is a genetic disorder that results in a form of dwarfism. Individuals who developed this disorder are characterized by a usually normal torso and shortened limbs. Furthermore, achondroplasia is ordinarily inherited as an autosomal dominant trait, which means that only one parent passes on a copy of the defective gene on a chromosome other than a sex chromosome. However, the majority of cases of achondroplasia are due to a new spontaneous gene mutation

History Achondroplasia is the most common diagnosis and most frequent form of those who are considered to be dwarfs (“Learning About”, 2016). When one thinks of dwarfism, they think of a short stature with short arms, legs, and a large head. It occurs in one in every 15,000 to one in 40,000 live births (“Learning About”, 2016). According to BBC News (2005), researchers found that the earliest biological evidence of dwarfs dates back to a Predynastic Period called the "Badarian Period" (4500 BC) in

abnormally, which happens in 80 to 99 percent of cases. Achondroplasia can be found during pregnancy with a fetal ultrasound. DNA testing has become more common over the past few years. It is used before birth for parents who have a higher chance at having a child with the homeostatic imbalance. Genetic testing is used when a doctor suspects something wrong. The tests search for the abnormal gene from a sample of amniotic fluid. If no signs of achondroplasia are found during pregnancy, the doctor will check