Achondroplasia Genetic Disease Effects and Testing Options

Achondroplasia Genetic Disease
Achondroplasia
Achondroplasia can be known as dwarfism which is a genetic disease which shows of a disorder in height and bone growth . Achondroplasia is a
genetic disease is a cause of Dwarfism. It occurs as a mutation is 80% of cases. It may be inherited autosomal dominant. People with Achondroplasia
have a short stature. Identified by an adult 4"10 or under. Achondroplasia can be announced in an ultrasound before your born there is aDNA test. The
gene mutation that is responsible for Achondroplasia is FGFR3. It is autosomal passed down from parent if with the abnormal gene. The parent often
may have the disease. It can develop from new mutations in the dominant affected gene. FGFR3 is a protein called fibroblast growth factor receptor.
... Get more on HelpWriting.net ...

The Effects Of Maternal Age On Offspring Health
Due to a combination of factors such as better access to contraceptives, the age at which a fathers first child is conceived has followed an upward
trend in recent years. Lots of research has been done into the effect of maternal age on offspring health, with the public's general knowledge of the
link between Trisomy 21 and maternal age testimony to this, however the risks that increased paternal age imply are less well documented and well
known. Increasing paternal age has in fact been linked to several birth defects, of which the focus of this essay will be on genetic mutations leading to
a combination of physical and neuro–cranial diseases. Paternal Age Effect (PAE) describes the phenomenon of offspring of older fathers having an
increased chance of suffering from certain spontaneous genetically based disorders. Most of these diseases associated with the father's age are
autosomally dominant, produced by de novo point mutations in a father's germline – mainly by base substitution. The effect arises due to
spermatogenesis, in contrast to oogenesis, happening constantly throughout a males life, therefore allowing sperm cells to accumulate a greater
number of cell divisions. So a 40 year old males sperm has undergone as many as 25 times as many chromosome replications as an egg, whereas the
sperm of a 20 year old man only around 7 times as many (1). This means they have had more opportunity to experience a disrupted mitotic/meiotic
division, leading to them being more

DNA Adaptation In DNA
Much of how the human body operates is due purely to one's genetic disposition. This is due to the way proteins are produced. In protein production,
DNA is read three base pairs at a time making up for a codon which codes for a specific amino acid. These amino acids are produced in translation,
and they will be strung together by something called tRNA to make full proteins. In DNA replication, there are many factors that determine the
efficiency and effectiveness of what product is achieved and how it functions. When base pairs are incorrect, are deleted, or extra pairs inserted, what is
called a mutation occurs. Mutations often times change the structure of a protein, how it performs, or what protein is produced altogether. They can ...
Show more content on Helpwriting.net ...
When an offspring has parents with similar genes, mutations in the parents are much more likely to be expressed. For example, the genes of first
cousins share roughly one eighth of their DNA. If one shares this much DNA with their partner, the likelihood of specific genes or DNA being donated
to the offspring increases exponentially in comparison to that of an offspring produced from non–similar parents. This allows recessive mutations in the
genetic code to be expressed which is why many deformities, mutations, or handicaps are commonly seen in those produced from an incestuous
relationship. Usually, common mutations that are seen are actually due to recessive alleles. However, even if the allele is recessive, having two
parents who carry said recessive gene mate can easily cause an expression of a mutation. In cases of incest, due to relation, mating relationships can
often have this recessive allele and will pass it on to an offspring. As it is commonly known by way of a punnet square, if two carriers for a recessive
gene mate whose genotypes are (Xx) and (Xx), the offspring will have a 25% chance of expressing the mutated gene in the form of (xx) alleles. One
may think that it is still not a high chance for mutation; however, in comparison to the chance of a mutation without a common recessive gene it is
seen as an extreme risk. Knowing that such relations can cause mutations and health concerns helps the population to remove possible

My Career With My College Career Essay
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 connecting to people on different levels. My interests changed throughout my college
career. Once enrolled in college, I believed I had an interest in Pre–Med with a specialization in Pediatrics. With my love for Math, Science, and
children, I had assumed that becoming a Pediatrician would be the right field for me. After taking more classes and discussing future career goals
with my peers and counselors, I knew it was not for me. Once I enrolled at Northern Illinois University, I declared my major as Psychology. Up
until then, I had only take two or three classes in the field and did have an interest for it. When searching for degrees to major in, I felt that
Psychology interested me more than the other degrees. I knew I wanted to be in the social service field. I graduated from Northern Illinois University
with a Bachelor's of Science degree in Psychology. Throughout my two years there and other two years at Kishwaukee Community college, I've
earned a place on the Dean's List

Achondroplasia Case Summary
According to the case Dwarfism: When Is a Fetus Normal? Achondroplasia is a bone growth disorder that causes disproportionate dwarfism in which
cartilage is not properly converted into bone. Dwarfism is a condition of short stature as an adult. People with achondroplasia are short in stature in the
legs and arms, with a normal sized torso and the head is enlarged. Charles and Amanda Harrelson requested a genetic test and elective abortion. Amanda
is pregnant for the first time and is three months into an apparently normal pregnancy. However, she and her husband were both achondroplastic dwarfs
and had requested tests for their fetus developing evidence of achondroplasia.
This results from a mutation in a single gene called fibroblast growth factor 3. It occurs in every 15,000 to 40,000 births, but if both parents have the
gene, one child in four will inherit two copies, which results in severe effects, usually stillbirth or death. One child will not inherit any copies and will
not be affected. Two in four will inherit one copy and have dwarfism, the same characteristics as their parents.
Dr. Elizabeth Whistler the obstetrician is discussing the diagnostic procedure and is helping them understand their options. If the... Show more content
on Helpwriting.net ...
In my opinion, I do not believe that the doctors are doing anything morally wrong if the parents are willing to abort this child, it is their decision to do
whatever they decide to do as long as the doctors are fully disclosing all information to the patients truthfully. This would also fall under the principle of
autonomy. Autonomy involves self–governance, self–determination and the idea that rational agents should be able to make decisions about their own
lives. This principle should be valued due to the understanding and beliefs of Mr. and Mrs.

Pros And Cons Of Genetic Testing
What are the most serious genetic diseases and what are the pros and cons of genetic testing? Here is a real life story of a woman who has been
greatly affected by genetic testing and has seen both the good and the bad of genetic testing. This is a story that was posted in an article called "6
Moms Share Their Real Prenatal Testing Stories" on the website "What to Expect" from Courtney from Lake Stevens, Washington about how
genetic testing has affected her life. So for Courtney, a few weeks after her 13 week ultrasound and her quad screen her doctors told her she had a
positive screen for Down syndrome. So at 17 weeks she had to go back in for another ultrasound and genetic counseling which according to kids
health.org is counseling that allows a genetic counselor to evaluate the results of a genetic test with the parents and helps the parents understand
and reach decisions on what to do next. Her ultrasound looked great but still had a positive screen for Down syndrome. So she was was
recommended for either an amnio or verifi test. Courtney then went to genetic counseling and choose to have the verifi test done over the amnio.
A week later her results came back negative for Down syndrome and confirmed the baby was a girl. Courtney said "I am glad we opted to get the
verifi test done especially after the stress of getting a positive screening before. I like how that if the NIPT did turn out positive for Down syndrome,
I could have prepared ahead of time for the care of a special needs child would require, rather than feeling completely caught off–guard at birth." As
you can see genetic testing is very important and can affect a child's and parents lives for the better and the worst. Children all over the world have
serious genetic diseases that affect their life on a daily. Some of these diseases are Achondroplasia, Down syndrome, and Turner's syndrome. Many
believe genetic testing is a good way to test for these genetic conditions before the child is even born, but others think that it can harm the baby very
badly and even cause a miscarriage, so they choose not to do this kind of testing. Knowing about the most serious genetic diseases is very important
for expecting parents to be informed as well as being

Examples Of Autosomal Dominant Genetic Disorder
Deoxyribonucleic acid (DNA) is the body's instruction manual for making you who you are. DNA is a large molecule that is coiled into a double
helix. It is responsible for determining the phenotype of an organism. A child can inherit a genetic mutation if just one parent passes along the
mutations or faulty gene. This type of disorder called autosomal–dominant inheritance. The examples of autosomal dominant genetic disorders are;
Achondroplasia (dwarfism) Alzheimer's disease (mental deterioration, usually strikes late in life) Huntington's disease (mental deterioration and
uncontrollable movements; strikes in the middle age) and Hypercholesterolemia (excess cholesterol in blood; heart disease). In addition, there is
autosomal recessive; transmission requires each parent to pass on the gene for it to be represented. ... Show more content on Helpwriting.net ...
The autosomal recessive disorders examples are Albinism (lack of pigment in skin, hair and eyes), Cystic fibrosis (excess mucus in lungs, tract to the
liver; increased susceptibility to infection; death in infancy unless treated), Galactosemia (accumulation of galactose in tissues), Phenylketonuria (PKU)
(lack of normal skin), Sickle–cell disease (sickled red blood cells; damage to many tissues) and Tay– Sachs disease (lipid accumulation in brain cells;
mental deficiency; blindness; death in childhood). According to Genetic and Rare Diseases Information Center (GARD), each person normally has
one pair of sex chromosomes in each cell, Y chromosome is present in male, and female have two X chromosome. The example of X and Y linked
disorder is Swyer syndrome which is a condition that affects sexual

CMMB 403
CMMB 403 Paper
Topic – Gene FGFR3
Using these three articles (or more), you should tell the story of the discovery and developmental function (including the relevant signaling pathway) –
One of your additional papers should concern the discovery of the function of the gene in humans (i.e. the human mutant phenotype)
Introduction
Achondroplasia is when cartilage during development is not developed into bone, which results in dwarfism. This condition also characterized by short
limbs is initiated by a gain of function mutation in the FGFR3 gene. This mutation is a point mutation. When this mutation occurs, the receptor of the
FGF does not need the FGF signal to be activated. This causes the chondrocytes to stop dividing and start differentiating into cartilage prematurely and
the bones fail to grow to their proper length, thus resulting in the short limbs that result from this mutation. (textbook) The FGFR3 gene encodes for
the Fibroblast growth factor receptor 3 protein. Textbook... Show more content on Helpwriting.net ...
Initially called protein 17B, FGFR3 was discovered based on the similarities Paper 1 discovered FGFR3 through the use of homologous genes of
other FGFRs. Regions such as the kinase domain and the C terminus were used to test the extent of homology between Protein 17B and the FGFRs.
Paper 1 used a human cDNA library which was hybridized in low stringency. Then under high stringency, a partial FGFR3 clone was used as a probe.
The DNA was cloned using dideoxynucleotide chain termination method. A mutation in the FGFR3 gene causes a premature activation of the STAT
pathway which also leads to the premature production of phoshorylated Stat1 protein. The phophorylated Stat1 protein encodes genes for cell cycle
inhibition, these leads to a decreased number of chondrocytes and hence shorter skeletal

Cervical Potenosis Paper
To understand cervical spinal stenosis, one must understand the process of disc degeneration and the effect it has on your spine. As people age, the
disc between the vertebra begin to lose a percentage of its water contact, thus effecting its ability to absorb shock. At first, the changes occur in the
annulus of the disc (Cervical Spinal Stenosis, 2013). These tears in the outer ring of the disc might not caused any symptoms and heal by the
formation of scar tissue. However, if this scar tissue is repeatedly subject to tears, it wears down and loses all its ability to absorb shock. The disc then
begins to collapse, causing the space between each vertebra to become smaller and smaller. This shifting of vertebra causes abnormal pressure on the
articular ... Show more content on Helpwriting.net ...
This thickening causes bone spurs to develop. These bone spurs could begin to encroach on the nerves on the spine, causing a narrowing of the
foramen. This narrowing of foramen is call spinal stenosis. However, if the body spurs start to place pressure on the spinal canal, cervical
myelopathy can begin to take place (Cervical Spinal Stenosis, 2013). There is usually narrowing of one, or more, of three areas of the spine. One area
is the canal of the spinal cord, where the nerves roots also run. The second area would be the canals branching out from the spinal cord that the roots
of the nerves expand from. The third area affected would be the opening between the vertebra, where the nerves leave the spine and go to the rest of the
body (Questions and Answers About Spinal Stenosis, 2013).
Epidemiology:
Lumbar spinal stenosis is most common reason for surgery in people over the age of 60 in the United States
Almost half a million people in the US suffering from lumbar spinal stenosis and many more experiencing cervical spinal stenosis.
Risk Factors:
Men and women over 50
Those who are born with a narrowing of the spinal

Evolution And How Does It Happen?
Andrew Briseno Yang Biology XL Period 3 5/3/15 Evolution Research Paper What is evolution and how does it happen? There are two ways of
evolution taking place. There is microevolution and macroevolution. Microevolution is gene frequency. Macroevolution is speciation. There are two
types of barriers that can be formed that would cause speciation to occur. Allopatric speciation is a physical barrier that separates a species long enough
for speciation, such as a dam that was built. Sympatric speciation is speciation occurs without a geographic separation, such a mutation that caused a
bird to sing a different song. Mutation can happen in many different ways. There is chromosomal alterations such as deletion, duplication, inversion,...
Competition is when organisms compete for resources. Not all organisms are created equal. This differences in the organism 's fitness is called
differential in fitness. How does this apply to humans? Humans are mutating right now. Some are caused by genes, while some are caused by the
environment. Dwarfism is usually caused by genes, and will make the person small in stature. Osteoporosis is usually caused by the environment,
and will the person 's bones weak and brittle. Dwarfism is usually caused by genes. Achondroplasia is a skeletal condition which causes dwarfism.
Some adult heights were recorded as short as 64 cm. Some Dwarfs can be proportionate or disproportionate. This is usually because of the inhibition
of the development of bones. Dwarfism is caused by the FGFR3 gene. A person with achondroplasia and with two average–size parents received one
mutated copy of the gene and one normal copy of the gene. A person with achondroplasia may pass along either a mutated or normal gene to their
own children. There is no real, all around treatment, due to the skeletal disorders, but in certain cases of pituitary dwarfism, it can be treated by giving
human growth hormone. Since the bones grow if different ways, sometimes surgeries that can correct some of the displacement of the bones are
needed. This is usually done with limbs and mainly the spinal cord. Osteoporosis causes bones to become weak and brittle, usually because the wear
and tear of

Ethical Dilemmas To Abort The Child
The ethical dilemma in this scenario is the parent's decision to abort the child and if the genetic counselor will or will not perform the genetic test.
The parents both have a defective gene that causes dwarfism, which they do not want to pass on to their children. The parents had decided before the
appointment that they were going to abort this child if he has two of the defective genes or even if the child does not have one of their mutant genes.
They wanted the child to be a dwarf just like themselves. In the parents' view, they did not want to face the difficulties of raising a normal–sized child
or raise a child with achondroplasia. Achondroplasia is a serious bone disorder, where the bones are abnormal and the person is often in a

Achondroplasia Problem
Health problems also come along with the physical imbalances. Health symptoms include hydrocephalus, apnea, kyphosis, and spinal stenosis. The ribs
can also grow 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 the child's features by looking at their legs, arms, and head to see if they

The Ethics Of DNA Testing And Ethical Dilemmas
As time goes on civilizations find innovations to make living a little bit easier. However, new frontiers often bring struggles. In Flackelmann's articles
on " The Ethics of DNA Testing" four situations are given and later followed by a comprehensive analysis by both the public and by experts in ethics,
law, genetics and any other various fields that correlate with the cases' scenarios. The first scenario (titled " A Case of Dwarfism") describes the story
of a couple who are carrying the gene for achondroplasia, meaning they both are dwarfs. The counselor tells the parents that through genetic testing
they can find out whether or not the child will have dwarfism as well. The couple has made 3 decisions; the first being that if the child has ... Show more
content on Helpwriting.net ...
I think in an advancing society it is necessary but, with limitations. A person has a right to know about their future children and is entitled to avoid
anything they may consider to be too troubling to handle; however, patients should be made aware that the results may be negative or defamatory. But,
access to this kind of information requires a serious amount of sensitivity and the person handling it should be aware of this and understand that the only
ethics that have entitlement in this situation are the subjects' . I think it's all very delicate and subjective. There should be many considerations when
having a child or dealing with one's genetics but, the most important one is quality of life. As long as the ethics support that they are not only beneficial
but,

Essay on Methods and Effects of Prenatal Genetic Testing
Methods and Effects of Prenatal Genetic Testing
I. Introduction
Prenatal genetic testing has become one of the largest and most influencial advances in clinical genetics today. "Of the over 4000 genetic traits which
have been distinguished to date, more than 300 are identifiable via prenatal genetic testing" (Morris, 1993). Every year, thousands of couples are
subjecting their lives to the results of prenatal tests. For some, the information may be a sigh of relief, for others a tear of terror. The psychological
effects following a prenatal test can be devastating, leaving the woman with a decision which will affect the rest of her life.
For couples with previous knowledge of genetic disorders in their family and concerned ... Show more content on Helpwriting.net ...
A. Amniocentesis
Amniocentisis is the most common prenatal test performed today (Morris, 1993). While the test is not totally risk free, estimated fetal loss due to
amniocentesis is less than 0.5 percent (O'Connor, 1989). This procedure involves the extraction of a small amount of fluid surrounding the developing
fetus. Within this fluid are cells which contain the genetic information of the fetus. Upon analysis of this fluid, the determination of the sex as well as
the location of genetic abnormality causing genes can be identified.
While the numbers sound safe and the odds of injury low, amniocentesis has one major drawback. Due to the nature of the technique, the earliest an
amniocentesis can be performed is in the second trimester of the pregnancy, approximately the fifteenth week. Once the procedure has been
performed, it takes any where from two to four weeks for the results of the cultured cells to be announced. Because of these delays, the anxiety of the
parents increase and the options available to the "parents" can become limited.
While there are several aspects which a couple needs to think about upon receiving information of the test results, one basic principle surrounds the
entire decision. What will we do with our fetus? One of the most common options for

Development Frameworks : Development And Development...
The human body is an extraordinary life form of life. It is loaded with eleven distinctive control frameworks that is utilized to direct it. One of the
primary framework that is utilized as a part of the arrangement of the human body is the skeleton framework. This framework controls the route in
which the body develops. This is performed from the diaphysis of the bones once a man quits developing then the epysisum line will show up. In any
case, what happens if the line shows up too soon and there are development lopsidedness. A development unevenness is caused by the FGFR3 Gene.
The FGFR3 quality gives guideline to making a fiber called fibroblast development factor receptor 3. "These proteins assume a part in a few vital cell
forms, including control of cell development and division (multiplication), assurance of cell sort, arrangement of veins (angiogenesis), wound
recuperating, and incipient organism advancement. The FGFR3 protein traverses the cell film, with the goal that one end of the protein stays inside the
cell and the flip side ventures from the external surface of the cell. This situating of the protein enables it to collaborate with particular development
factors outside the phone and to get signals that control development and advancement. At the point when these development factors join to the FGFR3
protein, the protein is turned on (enacted), which triggers a course of synthetic responses inside the phone that train the phone to experience certain

Osteoporosis In The Body's Skeletal System
The skeleton is a very important part of the body and is separated into two sections: the appendicular and axial skeleton. The appendicular is any part
of the body that attaches to another bone. Those include but not limited to the legs, arms, and hands. The axial bones are located within the center of
the body like the spine and ribs. Bones in these two regions are classified into different shapes including long, short, irregular, and flat. Flat bones are
found in the skull and ribs. The flat bones in the human body are flat and thin often curved. Short bones are the same size length wise and width wise.
Those are found in the wrist and ankle. Irregular bone does not go into a category. This bone can be found in the pelvis. Lastly, is the... Show more
Osteoporosis is a disease affecting the bones and is found mostly in women. This occurs when one's body either makes too much bone, makes too
little bone, or even both resulting in the bones becoming weak and breaking easily. This is causes by the bone having larger holes meaning the bones
"have lost density or mass and that the structure of 'one's' bone tissue has become abnormal" (National Osteoporosis Foundation 1984). Detecting the
disease is done by performing a bone density test. This diagnoses osteoporosis and help to guess the amount of bone located throughout the body.
There is a lot one can do to prevent this disease or even slow down the growth. It is important to eat a balanced diet, participate in exercise regularly,
and consume foods that are essential to bone health. An environmental factor that affects the skeletal developments is a disease known as
achondroplasia. This is "a rare genetic disorder characterized by an unusually large head (macrocephaly) with a prominent forehead (frontal bossing)
and flat (depressed) nasal bridge; short upper arms and legs (rhizomelic dwarfism), unusually prominent abdomen and buttocks; and short hands with
fingers that assume a "trident" or three–pronged position during extension (NORD 2015). This is causes randomly and affects both males and females
and has quite a few health problems related to this. One gets a lower muscle tone or even water on the brain.

Disproportionate Dwarfism
Dwarfism is short stature that results from a genetic or medical condition. Dwarfism is generally defined as an adult height of 4 feet 10 inches (147
centimeters) or less. The average adult height among people with dwarfism is 4 feet (122 cm). Many different medical conditions cause dwarfism.
In general, the disorders are divided into two broad categories: Disproportionate dwarfism. If body size is disproportionate, some parts of the body are
small, and others are of average size or above–average size. Disorders causing disproportionate dwarfism inhibit the development of bones.
Proportionate dwarfism. A body is proportionately small if all parts of the body are small to the same degree and appear to be proportioned like a body
of average... Show more content on Helpwriting.net ...
So the head, trunk and limbs are all small, but they're proportionate to each other. Because these disorders affect overall growth, many of them result
in poor development of one or more body systems. Growth hormone deficiency is a relatively common cause of proportionate dwarfism. It occurs
when the pituitary gland fails to produce an adequate supply of growth hormone, which is essential for normal childhood growth. Signs include:
Height below the third percentile on standard pediatric growth charts Growth rate slower than expected for age Delayed or no sexual development
during the teen years When to see a doctor Signs and symptoms of disproportionate dwarfism are often present at birth or in early infancy.
Proportionate dwarfism may not be immediately apparent. See your child's doctor if you have any concerns about your child's growth or overall

Differences Between Achondroplasia And Huntington's Disease
Normal genes are dominant over those that are abnormal for most of the time– but sometimes the trait is dominant, when one parent carries one
dominant abnormal gene and one recessive gene and the other parent carries two recessive normal gene's each child has a 50/50 chance of inheriting
the abnormal gene. Out of 1800 disorders that are generally recognized to be transmitted by dominant or achondroplasia (a type of dwarfism) and
Huntington's disease. While these defects can be serious defects that transmitted by dominant inheritance the reason for this is a dominant gene is
likely at an early age the children who are affected are apt to die before reproducing, as a consequence the next generation will be the recipient of this
defect and it

Achondroplasia Research Papers
To everyone, the image of a dwarf is easily recognizable, and is somewhat familiar. What is most commonly seen is a small–bodied human being, that
has not been given the gift of height. What is forgotten, however, is the fact that dwarfism, is a rare genetic disorder which is referred to as
achondroplasia, and is extremely rare. In order to understand the entirety of the disease, one must look at the origin of the mutation, as well as the
severity of the numerous defects, while being informed on the possible treatments to benefit those affected. This particular disease originates
specifically from either a gene alteration, or our inherited genes, which are described as a mutation that targets the skeletal system. Achondroplasia can
be inherited ... Show more content on Helpwriting.net ...
While some procedures can correct certain problems, others to fully correct stature are unheard of. Surgical procedures such as extended limb
lengthening, and stabilization of the spine, can help increase height and posture, but come with as many risks as any other surgery ("Dwarfism:
Treatment"). Other patients have the option of undergoing hormone therapy. This form of therapy injects a synthetic hormone that can extend the
growth of the limbs, to try and achieve the average adult size. Treatment can last from adolescent years all the way into adulthood to ensure the
complete growth of muscle, fat, and bones ("Dwarfism: Treatment"). In addition to limb treatment, there is a way to treat hydrocephalus in patients by
placing a shunt to remove excess fluid surrounding the brain ("Dwarfism: Treatment"). Thus opening a wide range of options to relieve stress and other
deformities that are associated with achondroplasia.
When trying to understand achondroplasia, looking at the cause of the mutation as well as the abnormal malformations, while being educated on the
possible treatments, will help to gain knowledge on the severity of the genetic deformation. Even with the wondrous medical procedures today, there is
still a vast amount of opportunity for better development to help treat achondroplasia. Therefore, keep in mind of the disabilities of those around you,
because

What is Anchodroplasia?
Achondroplasia is one type of short–limbed dwarfism where arms and legs are smaller in length but the head and torso look as if there is no
deficiency. The word achondroplasia is derived from the phase "lacking cartilage development." Cartilage is hard and durable but is also a flexible
tissue that makes up most of the bone structure during the early stages of development. Nonetheless, in achondroplasia there is no problem with
developing cartilage, but instead the problem comes in converting it to bone, a development known as ossification, predominantly in the longer bones
of the arms, such as the humerus, ulna and radius, and legs, which include the femur, tibia and fibula. Achondroplasia is comparable to additional
skeletal syndromes known as hypochondroplasia, but the structures of achondroplasia have a tendency to be more intense. All people suffering with
the genetic disorder achondroplasia are very short in physique. The typical height of a mature male with achondroplasia is 131 centimeters, or 4 feet 4
inches, and the typical height for mature females is 124 centimeters, or 4 feet 1 inch. It occurs in every 1 in 40,000 newborns making it the most
known category of short limbed dwarfism.
Distinguishing phenotypical symptoms of achondroplasia contain an average size torso, inadequate range of motion at the elbows, and a head that id
usually a larger than that of someone without the disorder, it is medically known as macrocephaly, they also have a bulbous forehead.

Achondroplasia Essay
I was born on June 24, 2001; I have a type of dwarfism called achondroplasia or ACH. Despite having average sized parents, I am the only relative in
my immediate family with achondroplasia. It can be tough at times to keep up with average sized people and do the same tasks as them on a daily
basis. For a long period of time I felt depressed and unsure of why I had ACH unlike my siblings. No one ever treated me different, but it was
promenade that I was different since I was a child. As I grew older I began to understand Achondroplasia better and have found ways to cope with my
dwarfism so I can live a happy and fulfilled life. According to GHR.gov, Achondroplasia is a very rare type of dwarfism; it affects one in about 15,000
to 40,000 newborns.... Show more content on Helpwriting.net ...
While out in public people constantly look at me and whisper about my size at times. I am only four foot two inches which is close to average for
women with achondroplasia but as a child I was even tinier. Most children did not see a difference between me and any other child until I was in
fourth grade. I was constantly bullied due to my height and abnormal head. I was unable to overcome the bullying causing my parents to pull me
out of public school and enroll me in online classes by fifth grade. I fell into depression and missed the small group of friends I had developed. My
mother would give me daily pep talks which helped boost my confidence as well as made sure I was treated as an equal and never make it known that I
was different. My sister also helped me overcome depression by spending a lot of time with me and assisting me when doing chores and other daily
activities; I never let her do anything for me though. I only let her help because I felt that I could still live like a normal sized person despite being
small and wanted to show everyone I was capable of doing tasks big or small on my own. I have been able to establish a close knit group of friends that
have been there for me for many years already. I am currently in high school, attending a public school, where I am accepted by many other teens and
enjoy all my classes and being in a social

Achondroplasia Research Paper
Abstract:
Dwarfism is a syndrome where a person has abnormal bone development. Symptoms include short stature, bowed legs, curvature of the lower spine, and
a prominent forehead. The most common type of dwarfism, Achondroplasia, is characterized by a glycine to arginine mutation on codon 380 in the
fibroblast growth factor receptor transmembrane domain 3 gene. When the mutated fibroblast growth factor receptor 3 protein interacts with a fibroblast
growth factor ligand, the receptor is stabilized and a cascade of events occur. Downstream receptor pathways that are affected by the mutation involve
signal transducer and activator of transcription 1 and phospholipase C, gamma 1. Different mutations on the fibroblast growth factor receptor
transmembrane ... Show more content on Helpwriting.net ...
Specifically, employing FGFR3 kinase chemical inhibitors to reduce its activity, allowing normal or near–normal bone growth (Laederich and Horton
2010). An inhibitor that targets FGFR3 has been generated and promoted normal bone growth in knock–in mice mice models with archondroplasia but
not live mice (Laederich and Horton 2010).
Garcia et al. (2013) carried out a study where a soluble form of human FGFR3 protein was employed to prevent FGF ligand from binding to the
mutated FGFR3, and thus preventing the MAPK signaling pathway and STAT1 activation from being overactive. The soluble FGFR3 was injected
into newborn mice twice a week for 3 weeks (Garcia et al. 2013). Restored growth plate bone chondrocytes maturation was seen and normal stature
was conserved (Garcia et al. 2013). Curvature of the spine was also disappeared (Garcia et al.

Essay On Achondroplastic Dysplasia
Achondroplasia is a disorder most commonly associated with its expression of dwarfism in those affected by it. Also referred to as Achondroplastic
Dwarfism and sometimes abbreviated ACH, a common definition follows that it is a genetic disorder disturbing the normal growth of cartilage. This
disorder, which affects all populations and is indifferent to gender, occurs when there is a mutation in one specificgene; the FGFR3 gene, on
chromosome four. This mutation typically occurs as a de–novo gene alteration, but is inherited as an autosomal dominant trait if passed on from a
parent/parents. Although a seemingly small difference, the genetic mutation associated with Achondroplasia causes drastic differences in body
appearance when compared to people without this disorder, mainly concerning the "abnormally short stature" it is characterized by (1). Additionally,
individuals affected by this mutation face a lifetime of physical and social challenges, as well as the possibility of dangerous medical conditions.
While the condition of extremely short stature is commonly called dwarfism, the term "skeletal dysplasia" refers to over two hundred disorders
associated with much shorter than average height (5). Forms of skeletal dysplasia are ... Show more content on Helpwriting.net ...
If the disorder is inherited from biological parents, it does so as an autosomal dominant trait, meaning a copy of the gene with the mutation is only
needed from one parent in order for the offspring to inherit and show the disorder (4). However, this scenario is seen only in about twenty percent of
the roughly two hundred and fifty thousand people around the world living with Achondroplasia (6). The majority of cases (eighty percent) are caused
by a randomly occurring mutation in the FGFR3 gene, known as a de novo gene alteration, which takes place for reasons scientists and medical
professionals are unaware of at this point in time

Essay On Achondroplasia
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 to the FGFR3 gene producing too many proteins that interfere with human
development. Since the proteins cause issues with bone and brain development its symptoms often relate back to the mutations. Achondroplasia is
easy to spot as those who suffer from it often have shorter limbs and an enlarged head. Most symptoms involve misshapen limbs or disproportionate
body parts that are easy to spot at an early age. Patients also suffer from modern pain due to the lack of proper development. Often a test isn't needed
to confirm if someone has dwarfism, but it is important to know which kind which is why tests are taken to determine if one has achondroplasia. ...
The main way I would consider to cure this disorder would be to start a test to confirm what mutation has occurred in the FGFR3 gene so
development for a cure can start. Is it possible to regulate the development of protein growth in the body that will help stop achondroplasia from
occurring? This would require a change to each cell in the human body if the gene were to be completely neutralized. Another possible way to do this
would be to get rid off groups of the overmade proteins so that the necessary amount could remain while the excess ones were removed.
Achondroplasia remains a mystery of how to cure as the only way to truly end it is to stop human development all

Dysplasia Research Paper
Most parents are happy to deliver a healthy baby without any health complications, so to hear that your child was born with a congenital disease has
to be hard to handle. In many cases, a child can live an enjoyable life with a congenital disease, such as dwarfism. There are many types of dwarfism
beginning with the most common types to the rarest with Achondroplasia, Spondyloepiphyseal Dysplasia, and Diastrophic Dysplasia. To begin with,
Achondroplasia is a disorder of bone growth (Learning About Achondroplasia, n.d.) and is the most common type of dwarfism. The term in itself
literally means "without cartilage formation" (Achondroplasia, n.d.). This type of dwarfism occurs in one in 15,000 to one in 40,000 live births due to
a gene mutation... Show more content on Helpwriting.net ...
They may also display some signs of hip dysplasia which is the crookedness or misalignment of the hip joints or cauliflower ear which is a
deformation in the cartilage in the ear. Diastrophic Dysplasia may also lead to deformities of the hands such as brachydactyly, the shortening of a
finger or fingers, or hitchhiker's thumb. To help with these signs or symptoms the child may need to see an otolaryngologist or plastic surgeon, a
geneticist, an orthopedist, a pulmonologist (a specialist to help with respiration problems), a physical therapist, or a nutritionists. Other actions that
may be taken to help with some signs or symptoms of diastrophic dysplasia are surgery, bracing, and careful monitoring. In the end, dwarfism is a
condition that affects thousands of people around the world and still enables people to live happily even through some problems. Although most
people get upset when their child is born with a congenital disease, it is possible to live with a relatively normal life. Achondroplasia,
Spondyloepiphyseal Dysplasia, and Diastrophic Dysplasia are tough to live with but with the right mindset anybody can conquer it and be happy with

Research Paper On Achondroplasia
Achondroplasia is caused by an abnormal gene located on one of the chromosome 4 pair (humans have 23 pairs of chromosomes). It is a result of an
autosomal dominant mutation in the fibroblast growth factor receptor gene 3 (FGFR3), which causes an abnormality of cartilage formation. FGFR3
normally has a negative regulatory effect on bone growth. In achondroplasia, the mutated form of the receptor is constitutively active and this leads to
severely shortened bones. In some cases, a child inherits achondroplasia from a parent who also has the condition. If one parent has the condition and
the other does not, with each pregnancy there is a 50 percent chance that each child will be affected. If both parents have achondroplasia, there is a 50
percent

Annotated Bibliography: Boston Children's Hospital
Bibliography 1–2013, Boston Children's Hospital. "Achondroplasia | Symptoms and Causes." Boston Childrens Hospital, Harvard Medical School
(Teaching Hospital), www.childrenshospital.org/conditions–and–treatments/conditions/achondroplasia/symptoms–and–causes. This website is a great
website for parents who want to learn basic information on the disorder. It gives what the main symptoms are and how the disorder occurs. It explains
what the treatments are and how the disorder is diagnosed in a clear easy way. It also gives a brief description that's easy to understand.
2–"Achondroplasia." Genetic and Rare Diseases Information Center, U.S. Department of Health and Human Services, www.rarediseases.info.nih.gov
/diseases/8173/achondroplasia. This

The Genetic Disease : 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 genetic disease is
Achondroplasia. Achondroplasia was first reported by archeological evidence in artisan and fossil records from as far back as ancient Egypt, Greek, and
Roman civilization, but was first proposed scientifically in 1878. This ... Show more content on Helpwriting.net ...
Cherubism is rare genetic disorder that causes prominence in the lower portion in the face, although Achondroplasia is on the short arm of the
chromosome, while Cherubism is on the longer side. To be more precise however, the fibroblastgrowth factor receptor 3 (FGFR3) spans anywhere
from base pair 1,793,298 to base pair 1,808,871. The other two main mutations was a
G– to –A transition, which happened on nucleotide 1138 (G1138A) 37 out of 39 times in an experiment. The other was a G– to –C transition, which
happened 2 out of 39 times, while also happening on G1138A. Achondroplasia happens around 1 in 15,000 to 40,000 live births. There are many
physical features that Achondroplasia causes the patient to have, like short stature with disproportionally short arms and legs, and short fingers. Other
symptoms is a large head, otherwise known as Macrophenaly, and specific facial features with a prominent frontal bossing and mid–face hypoplasia.
There are also cases of hypotonia, which causes delays in walking, and other delays of certain motor skills, compression of the spinal cord, and upper
airway obstruction. Achondroplasia can usually cause apnea in infants and adults, with some cases patients having lordosis with bowed legs, and
causing obesity due to inability to exercise properly. It can also cause compression of the spinal cord, and upper airway

Achondroplasia Research Paper
Achondroplasia is a disease that is dwarfism which is a change in growth of long bones, in resulting very short limbs. Sometimes a face that is small
in relation to a normal face sized to skull (hereditary condition). An adult height is four feet ten inches or less. It's a genetic or medical condition. The
major disorders in this disease is during early fetal development, much of your skeleton is made up of cartilage doesn't convert to bone. Caused by
mutations in the gene, FGFR3. This gene instructs your body to make protein necessary for the bone growth. It interferes with the normal skeleton
development. The symptoms of this disorder is when at birth/child: short legs and arms, an underdeveloped area of the face between the forehead
and upper jaw, short fingers, ring and middle finger point away from each other, and a disproportionately large head compared to the body. The
symptoms for health: decrease muscle tone which can cause delays in walking and other motor skills, apnea which involves brief periods of slowed
breathing or breathing that stops, hydrocephalus or water on the brain, spinal stenosis which is a narrowing of the spinal canal that can compress the
spinal cord. Last but not least but the children/adults symptoms: have difficulty bending their elbows, be obese, experience recurrent ear infections
because of narrow passages in the ears, developed an abnormal curvature of the spine called kyphosis or lordosis, and develop new ... Show more
This is treated by antibiotics are given for ear infections, surgery may be performed in severe cases of spinal stenosis. Even some doctors use growth
hormones to increase the growth rate of a child's bones, (there's not a cure or specific treatment for this disease). Nothing else is contribute to this
disease that I am aware

Essay On Achondroplasia
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 addition to several skeletons from the Old Kingdom (2700 – 2190 BC). There has been
evidence of dwarfism in ancient Egyptian times. Dwarfs were held in high regard in ancient Egypt even having two dwarf gods that they worshiped
named Ptah and Bes ... Show more content on Helpwriting.net ...
Obesity can be a common factor in achondroplasia and steps to avoid it is recommended to start in early childhood (Learning About, 2016). If
difficulty breathing or sleep apnea has been observed, there are surgical options to help correct these issues. There are also medical tests to evaluate
signs of spinal cord compression and hypotonia that are recommended (Learning About, 2016). If a reduced foramen magnum size is observed in
medical tests, there may be a need for suboccipital compression to reduce pressure on the spinal cord (Achondroplasia, n.d.). Middle ear infections are
quite common in accompanying this disease and must be managed accordingly (Achondroplasia, n.d.). Other management strategies may be less
thought about, however, those growing and living with this disease face many hardships that those of normal stature do not. This poses psychological
turmoil that can be prevented by talking with therapists available to help guide those through this challenging but overcoming process (Rasmussen,

Achondroplasia is a genetic disorder in which there is a...
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 not offend them would be little people, LP, person with short stature, or dwarf. Even
though dwarfs feel as if they do not have disabilities, the Americans with Disabilities Act (ADA) will protect the rights of dwarfs. (who discovered it?
March... Show more content on Helpwriting.net ...
80% of achondroplasias have normal sized parents, which mean that their parents have the genetic disorder dormant in their bodies. (News Medical,
March 28, 2014.)
There are two broad types of achondroplasia: Proportionate and disproportionate. Disproportionate achondroplasias have short legs and arms with a
long core while proportionate achondroplasias are just small all over. ( News Medical, March 28, 2014.)
Achondroplasia is the most common form of dwarfism. 1 out of 26,000 to 40,000 babies have achondroplasia and it is noticeable at birth. People with
achnodroplasia are characterized by having small arms and legs, a small body, and sometimes crowded teeth. A less common form of dwarfism is
Spondyloepiphyseal Dysplasias (SED). About 1 in 95,000 babies get this form of dwarfism. They are usually characterized by a shortened trunk,
club feet, and weak hands and feet. The most rare form of dwarfism is Diastropic Dysplasia. This occurs in about 1 in 100,000 births. People with
this type usually have shortened forearms and calves, deformed hand and feet, limited range in motion, and a cleft palate. (Webmd, April 8, 2005,
March 28, 2014.) To be considered a dwarf, the height of the person must be 4 feet 11 inches and under.
Even though someone is still a dwarf, they can still haven babies. Since their pelvis is so much smaller than a regular sized person, they usually are
required to

Definition Of Disease Of Dwarfism
Definition of Disease
Dwarfism is defined as short stature of 4 feet 10 inches or shorter. This results from a genetic or medical condition. The average height of a person
with dwarfism is 4 feet tall. According to the Mayo Clinic, "There are many things that can cause dwarfism, however; the disorders are divided into
two broad categories" (Medical Education, 1998). The first category is called Disproportionate dwarfism, this is when a person's body parts and limbs
may be smaller, larger, or average size compared to overall stature. This "disease also hinders the development of the bones" according to (......).
Second we have Proportionate dwarfism this is "when the body parts appear proportionate to the rest of the body similar to a body of ... Show more
This disorder can affect malformations in the spine, hips, joints and even ones eyes.
Cause of Disease
Causes of dwarfism include but are not limited to genetic disorders, hormone deficiencies or medical conditions. Disproportionate dwarfism may be
caused by a disorder named spondyloepiphyseal dysplasia congenita. Which is a disorder of bone growth that concludes into dwarfism, skeletal
irregularities, and trouble with hearing and vision. Proportionate dwarfism" is caused from medical conditions apparent at birth or early childhood
which limits growth and development" (....). Also a growth hormone deficiency is common cause of this disease. However ....... Stated, "most
occurencesss of dwarfism result from a random genetic mutation in either the fathers sperm or mothers egg rather than from either parents complete
genetic makeup"(pg.)
Incidence of Population
Dwarfism is usually rare and not considered a disease, it could cause a life threatening risk. In order to be diagnosed as a Dwarf you must be under
4'10'. According to Mayo Clinic "The prevalence of dwarfism refers to an estimated population of those living with dwarfs. (mayo clinic)". Along
with prevalence there is also the term incidence, this usually refers to a yearly diagnosis rate and thr rate of new cases. The Genetics Home Reference
states "More than 200 different conditions can cause dwarfism"(..). A single type, called achondroplasia,

Achrondoplasia Essay
Imagine living in a world where everything is super–sized. Imagine having to step on a stool to crawl into bed, or having to climb onto a shelf to be
able to reach a light switch. Most of all, imagine having to look up to your much taller younger sister when she speaks to you. Situations like 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 ... Show more content on Helpwriting.net ...
Achondroplasia is a disorder of bone growth and occurs in about one of every 25,000 births. Achondroplasia literally means ?without cartilage
formation,? but in reality the cartilage in an individual does form, it just isn?t converted properly into bone, resulting in the individual being of
abnormally short stature. People with achondroplasia are typically between four feet and four feet, five inches. Their skulls are misshaped and they
have short limbs, and stubby fingers and toes. Their heads are large and look out of place on their body, and their foreheads are prominent. Some are
bow–legged or hunch backed, and some have hyper–extending joints while others have under–extending joints. Dental crowding commonly occurs.
Achondroplasia can be diagnosed in several different ways. Firstly, the condition can be diagnosed through prenatal diagnostics, where testing is
preformed on the fetus. DNA can be extracted from the fetus and tested to see if there are any FGFR3 mutations. Chronic villus sampling,
amniocentesis, and ultrasounds can even be used to diagnose the condition.
Achondroplasia can not only be diagnosed on a molecular level, but also on a physical level. Newborns with the disorder usually have abnormally
long torsos with noticeably short arms and legs. Their heads are large and their foreheads prominent. They have

What Is Achondroplasia?
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 ear infections. This is the description, causes, and they symptoms. Testing, diagnosis, and how life
is made is easier. First, there is many ways to test for Achondroplasia. Here are some examples, measurements, genetic tests, and hormone

Achondroplasia Letter
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 and feet, a abnormally long or short trunk, and the height under 4 feet 10
inches. ( Mayo Clinic Staff. (2016, April 03). The way we spotted this condition was when you had your ultrasound and found the fetus had shorten
bones, we had a Amniocentesis test and it confirmed Achondroplasia. (March of Dimes. (April, 2013). Sadly Achondroplasia is not curable but to
take some steps to improve your daughters health are hormone therapies to help increase bone growth or you can have surgery to add gaps in her
bones to grow. (Mayo Clinic Staff. (2016, April 03). The best thing in my opinion as a professional is to treat her as a normal person and to help her
in time of... Show more content on Helpwriting.net ...
Kids with Achondroplasia sometimes get bullied by peers at school growing up or are called names like midget, make sure to inform teachers if your
child is getting bullied because every life is important no matter what you have that affects

Dwarfism
Dwarfism
Dwarfism is a medical condition that affects roughly one in every ten thousand children born in America. The Little People of America defines
dwarfism as male or female adult to attain a height of four feet ten inches or shorter. The most common type of dwarfism is Achondroplasia. Dwarfs,
or little people, still live fairly normal lives.
Most dwarfism–related conditions are genetic disorder, but the causes of some are unknown. Most occurrences result from a random genetic mutation
in the mother's egg or the father's sperm rather than from either parent's complete genetic makeup. Achondroplasia is the most common type of
dwarfism. Infants born with achondroplasia typically have an arched skull to accommodate an enlarged ... Show more content on Helpwriting.net ...
About half of infants with this type of dwarfism are born with an opening in the roof of the mouth and also deformed ears.
Living with dwarfism is not only about being tinier than everyone else. People with dwarfism are limited not only medically by various complications
but also by the world around them built for much larger people. In many every day life situations, dwarfs meet difficulties related to the height of
furniture, service counters, ATMs, store shelves, along with steps in buildings or public transit. They are more likely to get fatigue from walking long
distance, and also tend to get mean looks, discriminatory attitudes, constant prejudice, and sometimes insults. Through organizations such as Little
People of America, little people are coming together socially and politically to challenge stereotypes, to educate Americans, and provide support.
There are many treatments that can be given, but most dwarfism treatments don't increase stature they may just correct problems caused by
complications. One way to correct people with dwarfism is surgery. Surgical procedures that may correct problems in people with dwarfism include
correcting the direction in which bones are growing, correcting the shape of the spine, and increasing the size of the opening in bones of the spine to
relieve pressure on the spinal cord. Another type of treatment is limb lengthening. This procedure is controversial for many people with dwarfism
because there are

Achondroplasia Case Study Essay
This case study follows a patient who has achondroplasia and a prenatal diagnosis that may encourage termination of pregnancy. The disorder comes
after a mutation in a single gene, the fibroblast growth factor 3 genes. This genetic mutation causes short stature. Achondroplasia can have other
features such as short arms, and short legs. This disorder can occur in every 15.000 to 40.000 births. Mutation involved in an autosomal dominant
mutation. Two copies of the mutant gene can be fatal and cause death after or before birth. The patient wants to have anabortion if her child does not
carry a copy of the gene. If one copies of the gene are present for the disorder the pregnancy might be successful. Autonomy lets the mother decide for
herself and the existing being in ... Show more content on Helpwriting.net ...
The doctor advises the possible results that might come out of this diagnosis. The patient and her husband are trusting this doctor to respect their
decision. Beneficence influences the doctor to act in the best interest of the patient's welfare and it is methodically connected to non–maleficence, the
obligation to do no harm (Clinical Ethics p.43). If the patient decides to end her pregnancy the doctor has to respect their decision causing
non–maleficence to the fetus. Autonomy and Non–maleficence come in conflict with abortion in this case. It is the patient's legal right, with no
justification required to terminate her pregnancy. Regardless if something is or is not wrong with the fetus, it needs to be done. It is in the patient's
best interest to get the diagnosis started right away. A normal fetus will not have abnormalities in a prenatal diagnosis. There is no say the fetus is
normal when testing has not been done. However, the parents will have an abortion if the fetus carries two copies of the gene, or the fetus carries no
copies of the

Achondroplasia Essay
Achondroplasia (ACH) is the most common form of short–limb dwarfism occuring in 1 in 15,000 to 28,000 births and appears to be slightly more
prevalent in females, but indiscriminent toward race (1–3). Evidence has been found in Egypt for cases of ACH dating back as far as 4500 B.C. (4). In
simplest terms, ACH is a disease where the dwarfing of bones formed in the cartilage occurs (5). There are many features that accompany this disease
including rhizomelic (proximal) shortening of the extremities, megalencephaly (enlarged brain), short stature, trident hand, and frontal bossing
(prominent forehead) (1, 3, 4, 6–8). Expression of this gene at high levels is primarily found in cells of the nervous system and the cartilage rudiments
and... Show more content on Helpwriting.net ...
A point mutation is one where only one nucleotide is changed and a missense mutation is when the amino acid changes due to the base(s) mutated.
FGFR3 consists of 19 exons, with the mutation occuring in exon 10 (1, 16). Furthermore, the mutated base is 1138, where the base can undergo two
possible mutations. G(guanine)в†’A(adenine) transition accounts for 98% of all cases of ACH while the Gв†’C(cytosine) transversion mutation
occurs in 1% of cases (6). Both of these mutations result in the amino acid arginine being substituted for glycine at codon 380 which is in the
transmembrane of FGFR3 (1, 4, 17) (See Figure 1). The FGFR3 mutation is a gain–of function mutation due to the resulting activation of receptors,
which is opposite the normal inhibitory effect the FGFR3 has on the receptors, which upon activation, negatively regulate bone growth (4, 6). Thus,
FGFR3 has been found to become hyperactivated when mutated and undergo ligand–independent dimerization (1, 11, 18). De novo mutations account
for 80–90% of all cases of ACH (1, 4, 7, 8, 11). Recent research has determined that increased paternal age correlates to this specific mutation occuring
(4, 7, 11, 19). The maternal age seems to have no effect, meaning that the de novo mutation occurs during spermatogenesis (20). This has also been
studied and each affected individual was found to have received the mutated chromosome paternally (21). There has only been one documented case of
an

Different Types Of Disorders And Diseases Caused By A...
There are many types of disorders and diseases caused by a mutation in the human genome, a fundamental building block of DNA. Achondroplasia
has been classified for a long period of time, but it was only around twenty years ago that the cause was discovered. This disorder happens to be
caused by a simple change of base in an autosomal chromosome. This is commonly a transitional mutation that causes a simple change in protein
structure. Most of the individuals with Achondroplasia have similar mutations at a common nucleotide. Achondroplasia is a classification of dwarfism,
which is a genetic disorder that causes a mutation on an autosomal chromosome with a change in a single nucleotide.
Achondroplasia is a common form of dwarfism that is noticed by a short stature, lowered muscle tone, reduced extension of arm joints, shorter than
normal hands and mid face hypoplasia (HUNG, C., et.al.2008). The first classification of Achondroplasia was by Dr. Jurgen Spranger, then in 1994 the
gene that was found responsible was mapped by Dr. John Wasmuth and thus found to be located on chromosome four; that being said this fact makes
the mutation autosomal (Vajo.z, et.al 2000). Achondroplasia, a heredity form of dwarfism, that affects every 1 in 15,000
– 40,000 live births with most
newborns showing the common characteristics of the disorder (LIU, J, et.al.2015). The mutation effects a gene in the fibroblast growth receptor
number three (FGFR3) (Varo's, et.al 2000).Many conditions are

Achondroplasia Genetic Disease Effects and Testing Options

Recommended

Recommended

More Related Content

More from Tiffany Miller

More from Tiffany Miller (20)

Recently uploaded

Recently uploaded (20)

Achondroplasia Genetic Disease Effects and Testing Options