Rare Disease Disorders Explained

Canal Dehiscense
Superior Semicircular Canal Dehiscense is an auditory disease in which there is no bone over the
superior semicircular canal of the ear. This can cause a wide array of inner ear problems. Pateitns
with this rare disorder report signs of dizzines, vertigo, and trouble with balance. They also may feel
like the ear is full or achy, and have trouble hearing correctly. Many patients may be asymptomatic,
or may be misdiagnosed with other diseases or causes. Per NORD, (National Organization for Rare
Disorders) this disease is called the "great otologic mimicker" because it is so often misdIagnosed,
and overlooked. The cause of this disease is believed to be a congenital defect. Only 1–2% of the
whole population is born with this bone defect. The
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Sirenomeli Mermaid Syndrome
Sirenomelia, also referred to and more commonly known as Mermaid Syndrome, is an extremely
rare congenital disease characterized by the partial or complete fusion of the patient's legs and feet,
giving it the appearance of a mermaid's tail from Greek mythology. The degree of severity can vary
widely from person to person, in some cases the affected infant has only one femur while in others
they have two femurs pushed together into one sealed shaft of skin. Infants affected may have one
foot, both feet, or no feet at all. In fact there are seven ways to classify the severity of the disorder
which includes some of the aforementioned symptoms. The first through seventh type are
characterized by the following features, all thigh and leg bones are ... Show more content on
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Researchers believe that several environmental and genetic factors work together and play a role in
the development of Sirenomelia. The most popular medical theory suggests that Sirenomelia could
be caused by abnormalities in the blood circulating system within the embryo at an early stage of
development. Some affected individuals have been found to have a single large artery followed by
the absence of the usual two arteries that branch out to lower areas and carry blood to the tail end of
the embryo. The single artery that is present, which is referred to as a "steal" vessel due to the fact
that it essentially steals blood and nutrients from the lower part of the body, diverts the flow of
blood that normally circulates from the aorta to the lower portion of the embryo back up to the
placenta instead so the blood and nutrients that are needed never end up reaching the tail end of the
embryo. Due to the malnutrition from this lack of blood flow, the fetus fails to develop two separate
limbs. (National Organization for Rare Disorders, 2018) There is still much to learn about what
causes Sirenomelia since there is so little known about it currently. When experimenting with

Progeri A Little Known Progressive Genetic Disorder
Progeria is a little known progressive genetic disorder. This extremely rare, highly fatal, genetic
disorder, which comes from the Greek "progeros" meaning "prematurely aging" (Gale
Encyclopedia, p. 2202). With the Greek language "pro" is meant to mean before, and "geras" meant
for old were combined to create the meaning of this disorder. Commonly referred to as "Progeria",
this disorder is named Hutchinson–Gilford Progeria Syndrome; HGPS for short, was first described
in an academic journal by two English doctors, Dr. Jonathan Hutchinson in 1886, and Dr. Hastings
in 1897.
Since HGPS's discovery a reported 1 in 8 million newborns have been known to become affected
with the disorder (Parker, 2004). With approximately one hundred known cases since its discovery
over a hundred years ago, there are only about thirty maybe forty case now known throughout the
world. Due to the rarity of this disorder the Office of Rare Disease of the National Institute of Health
has listed it as a "rare disease". The truth behind these statistics are that many cases are undiagnosed
and/ or even misdiagnosed. Today, more and more children are born and diagnosed with progeria
throughout the world. Within this paper the complexity of the disease, signs and symptoms,
treatments, effects on the family and additional resources that may be available will be discussed.
During many studies performed by different researchers, it was found that Hutchinson– Gilford
progeria's main cause is a mutation of the

Dandy-Walker Syndrome
Dandy–Walker Syndrome or Dandy–Walker Malformation is a congenital malformation of the
cerebellum and the fluid filled space surrounding it. The malformation can include an enlargement
of the fourth ventricle, a partial or complete absence of the space between the two hemispheres of
the cerebellum (called the vermis), and a cyst formation near the lowest part of the skull (National
Institute of Neurological Disorders and Stroke [NINDS], 2016). Dandy–Walker Syndrome is found
in approximately 1 of 25,000 to 35,000 live births and is more prevalent in females than males
(NORD–National Organization for Rare Disorders, 2008). Although an exact case is not known, the
syndrome may be a result of defects in the embryonic development of the cerebellum. Research has
found that in some cases patients have chromosomal abnormalities. Dandy–Walker may also be
caused by genetic abnormalities or environmental factors, teratogens (NORD–National Organization
for Rare Disorders, 2008). Maternal diabetes and infections passed through the mother to the fetus
may also result in a child born with Dandy–Walker Syndrome (Childrens National Health System,
2016). Like many disorders, Dandy–Walker Syndrome varies in severity from patient to patient. The
symptoms ... Show more content on Helpwriting.net ...
These diagnostic tests will be performed if the symptoms lead the practicioner to believe it may be
Dandy–Walker Syndrome (NORD–National Organization for Rare Disorders, 2008). An initial
diagnosis may be made with the use of an ultrasound, but an MRI should be used to get more details
of the malformation of the cerebellum (Incesu, 2015). A CT scan can be used to determine if
hydrocephalus is present because of Dandy–Walker or if it is related to another etiologies (Incesu,
2015). Diagnosis may also be made during the prenatal period through ultrasound and fetal MRI
(NORD–National Organization for Rare Disorders,

Rubinstein-Taybi Syndrome
There are over 5,000 genetic disorders passed down through the generations. These disorders are
caused by abnormalities within the chromosomes of an individual. Rubinstein–Taybi syndrome, or
RSTS, is a rare genetic disorder that occurs in 1 child out of anywhere between 100,000 to 125,000
children. It was identified by Dr. Hooshang Taybi, a pediatric radiologist, and Dr. Jack Rubinstein, a
pediatrics professor, in 1963.
RSTS is mainly caused by a deletion within the arm of chromosome 16. However, not all patients
have a mutation on the chromosome. According to the Genetic and Rare Diseases Information
Center, the disorder can "be caused by a mutation in the CREBBP or EP300 gene... or other genes
that have not yet been identified" (GARD 1). CREBBP and EP300 are both codes for different
binding ... Show more content on Helpwriting.net ...
Most children with the disorder have extreme developmental and intellectual delays. According to
an article from the National Organization of Rare Disorders, as children age, they "experience poor
growth and exhibit short stature" (NORD 1). The organization also states that most children
experience developmental milestones, like crawling and expressive speech, later than normal.
Children also experience behavioral issues, including the inability to pay attention, sensitivity to
varying sounds, and spontaneous moods. Congenital heart defects, abnormal lungs, spinal
deformities, and various malignancies are common among individuals diagnosed with RSTS. Many
physical features are also affected. The American Association for Pediatric Ophthalmology and
Strabismus describes the ocular symptoms of RSTS as downward "slanting... eyes, widely spaced
eyes, strabismus (eye misalignment), ptosis (droopy eyelid),... frequent eye infections... [and]
congenital glaucoma" (AAPOS 1). Diagnosed individuals may also have a beak–like nose, small
head, small mouth or jaw, overly broad fingers (mainly thumbs) and toes, or warped or duplicated
foot

The Cure, By Geeta Anand
Some people succeed because they are destined to, but mostly because they are determined to"
(unknown). This quote truly represents John and Aileen Crowley, the parents of John, Meagan, and
Patrick in the book "The Cure," by Geeta Anand. Having two of their children born with a life
debilitating disease called Pompe disease, was hard to comprehend. Being told that their children
have only months to live due to the fact that there was no medicine on the market to combat the
disease, John decided to quit his marketing executive job to find a cure and make a drug that will
save them. He invested himself and his life's savings in a startup biotechnology company that grew
from 27 million dollars to 137.5 million dollars. There were many challenges he faced throughout
the entire story line, yet he continued to persevere which ultimately paid off. One of the biggest
hardships he faced was after the drug was about to get tested. He was told that the drug would only
be tried on babies that were less than six months old and that his two children would not be included
in the clinical trial. To hear that his children were not going to in fact receive the drug after all this
time and effort was crushing, yet he insisted to find a way that they would get it. The scientist
concluded that it would be good research to see if the medicine worked in siblings, and they made
an exception to let these two siblings be included in the study. His hard work and willpower to
succeed paid off when the

Fibrodysplasia Ossificans Progressiva Research Paper
Fibrodysplasia Ossificans Progressiva Fibrodysplasia Ossificans Progressiva, FOP, is a rare and
disabling bone disease. It is caused by a genetic mutation of the gene that controls the growth and
development of the bones and muscles. The man who discovered this game–changing information is
Dr. Kaplan. "The discovery of the mutation immediately suggests an approach to treatment: either to
block the renegade proteins or to destroy the message coming from the mutant copy of the gene that
creates the renegade proteins, says Kaplan" (Cause of: FOP). Muscle and connective tissues, as well
as tendons and ligaments, are gradually ossified, meaning they are replaced by bone. This limits and
eventually permanently prohibits movement. FOP usually starts

Essay On Osteogenesis Imperfecta
Osteogenesis Imperfecta is a rare genetic disorder caused by a gene mutation in which bones break
easily, often with no particular cause. OI can cause extreme pain and discomfort. There are several
types of this disorder ranging in severity. The population affected by this disease ranges by type
from one in every sixty thousand to one in every thirty–thousand. Signs and symptoms vary based
on the type of Osteogenesis Imperfecta the patient has. The most common type is Type I. This is a
mild type of the disease and often is not diagnosed until adulthood. Some common symptoms are
brittle teeth, hearing loss in some cases, blue sclera, easy bruising, and mild delay in motor skills. In
most cases there is little or no bone deformity, normal height, ... Show more content on
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In a case where it is detected prenatally, it can be diagnosed during an ultrasound or by genetic
testing, including amniocentesis. However, if it is not detected before a person is born and
symptoms are present, the doctor may run tests along with a physical exam and a family medical
history. X–rays and bone density tests can be run to help diagnose Osteogenesis Imperfecta. In some
cases the doctor may perform a bone biopsy. Type I is the most common form of Osteogenesis
Imperfecta. In this form the patient may not show a lot of the symptoms that are common in other
types of the disorder. People with Type I are often not diagnosed until later in life and most of their
fractures will occur before puberty. Even though their collagen structure presents as normal, the
amount will be less than normal. This is a very important detail when you are comparing Type I and
Type II. Type II is more severe than Type I. In most cases an infant diagnosed with Type II can result
in stillbirth or death shortly after birth. Infants born with this type will have tinted sclera, bone
deformity, low birth weight, and short limbs. Some infants will have fractures at birth along with
underdeveloped lungs. It is subdivided into three groups that can be distinguished during an x–ray
(A, B,

Orphan Drug Report
Orphan Drug Report
An orphan drug is a drug designed to treat a rare disease or condition. For a drug to qualify for
orphan status both the drug and disease or condition must meet certain criteria specified in the
Orphan Drug Act (ODA). This designation would qualify the sponsor of the drug for developmental
incentives which includes waiving of regulator fees, faster or simpler clinical trial and approval
process, tax credit or grants to offset research and development, and a period of marketing
exclusivity which means no competition for many years. it does not mean that the FDA is less strict
when it comes to safety and effectiveness. All of this is specified within the FDA's implementing
regulations at 21 CFR Part 316. It's ... Show more content on Helpwriting.net ...
There are a great many side effects the most common include fear, increased cough, lack or loss of
strength, night sweats and throat irritations The primary means of dosage is through intravenous
injection and the strength depends on the condition it is being used for. These conditions include
non–Hodgkin's Lymphoma, Rheumatoid Arthritis, Chronic Lymphocytic Leukemia, Wegener's
Granulomatosus, Microscopic, Polyangiitis. The life threatening side effects of using Rituxan
include abnormal heart rhythm and liver damage.
Another example is Gleevec from Novartis Oncology this drug went on to have non–orphan
indications; it had sales of $2.4 billion in 2010. The brand name of the drug is Gleevec and the
generic name is Imatinib. This drug interferes with the growth of some cancer cells. Gleevec is used
to treat certain types of leukemia (blood cancer), bone marrow disorders, and skin cancer, or certain
tumors of the stomach and digestive system. The most common side effects include Acid or sour
stomach, belching, difficulty having a bowel movement (stool), difficulty with moving,
discouragement,excess air or gas in the stomach or intestines, fear or nervousness, feeling sad or
empty, feeling unusually cold, full or bloated feeling, increased bowel movements, irritability, lack
or loss of strength, loose stools, loss of interest or pleasure, muscle stiffness, night sweats, passing
gas,

Trisomy 13: Patau Syndrome
Aneuploidy is when there is a deletion or duplication of a single chromosome (Pierce, 2013, p. 159).
Alteration in the number of chromosomes can affect the health of an individual. One good example
of aneuploidy is the Trisomy 13, also known as Patau syndrome. This condition is caused by an
extra 13thchromosome, instead of the normal two copies. It occurs in about 1 out of every 10,000
newborns and affects female slightly more than the male. Babies who are born with this disorder
have many abnormalities. Affected infants will present with intellectual and physical abnormalities
that include brain and spinal cord abnormalities, heart defects, kidney defects, and extra fingers or
toes. Their head is smaller than the normal baby, they have cleft

The Importance Of Vaccines
There has always been an ongoing controversy of whether or not vaccines are safe to use for the
protection against infectious diseases or if inhibits the development for certain disorders from the
vaccine itself.
Individuals who support vaccination believe that this form of protection is the most effective yet
safest method to prevent lethal infectious diseases.
According to ProCon.org (2017), one of the main reasons supporting vaccination is the eradication
of lethal diseases such as smallpox, poliomyelitis, diphtheria, mumps, measles and rubella. Another
main reason is that vaccines protect the "herd" where a significant portion of the herd immunity
(community immunity) is protected against contagious diseases.
The third main reason supporting vaccines is major medical organizations stating that vaccines are
safe from their effectiveness and rare cases of vaccines producing harmful side effects. Those who
oppose this belief, speculate the possibility of developing certain side effects from the exposure of
the vaccine's ingredients. One of the main reasons against vaccinations is that the Government
should not intervene in personal medical choices, vaccines contain harmful ingredients and the
possibility of serious and fatal side effects (ProCon.org, 2017).
Individuals who believe that vaccinations should be mandatory, especially for children, view this as
an opportunity to effectively build immunity against infectious diseases. Vaccine–preventable

Pt1310 Unit 2 Case Studies
CDI is a rare hormonal disorder that occurs in one out of every 25,000 individuals. (National
Organization for Rare Disorders [NORD], 2015). According to NORD (2015), it occurs at any age
groups but common between the age of 10 and 20 years.
Post–traumatic central diabetes insipidus (PTCDI) is a term that further narrow down CDI based on
the cause. It is defined as an injury secondary to trauma to the posterior pituitary gland and pituitary
stalk or hypothalamus neuron, which produce ADH secondary to injury (Capatina et al., 2015, p.
1450). This Case study will discuss PTCDI based on a patient, Mr. B, who has water and electrolyte
imbalance after suffering from head trauma.
Mr. B is a 73–year–old male who was admitted to the intensive care

Genetic Disease: Albinism
Genetics Diseases Paper: Albinism
Many people every year find out that they have some sort of genetic disease. Genetic diseases affect
an estimated 12 million people and their families. According to Mayo Clinic Staff: Albinism, among
all the genetic diseases one of the most uncommon is Albinism, which has less than 20,000 cases in
the U.S. per year. Albinism is an inherited disorder that produces little or no pigment due to no
melanin. This is one of the genetic diseases that can be self diagnosed although, there are tests
available for a professional to diagnose for further precaution. Albinism is a disease that can last for
years (which is very rare) or a life time because there is ultimately no cure. Albinism is a very rare
disorder that ... Show more content on Helpwriting.net ...
Many wear protective clothing and a lot of sunscreen to reduce the exposure to sun UV rays which
can damage skin over time. They wear sunglasses to protect their eyes and glasses or contacts for
normal everyday uses as well as corrective lenses to improve their

Research Paper On Distichiasis
Genetic disorders: a terrifying thought and a startling reality. Most genetic disorders, such as cancer,
have disastrous connotations, while others, such as albinism, have slightly less harmful effects. The
disorder called distichiasis (pronounced dis–tic–key–i–asis) can be part of the latter. This disease,
apart of chromosome 16, has few symptoms and even fewer treatments. distichiasis, though able to
show up on it's own, is often paired with other genetic disorders that come with harmful
symptoms(Lymphedema–Distichiasis Syndrome), and has been known to show up in dogs as well as
humans(Distichia or Distichiasis in Dogs). Distichiasis is the genetic mutation of the
FOXC2(Lymphedema–Distichiasis Syndrome). This gene is found on the chromosome ... Show
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Accessed 15 Apr. 2017.
Rostami, Soheila. "Distichiasis Treatment & Management." Distichiasis Treatment & Management:
Medical Care, Surgical Care, Consultations, 6 Jan. 2017, emedicine.medscape.com/article/1212908–
treatment. Accessed 15 Apr. 2017.
"Lymphedema–Distichiasis Syndrome." NORD (National Organization for Rare Disorders),
rarediseases.org/rare–diseases/lymphedema–distichiasis–syndrome/. Accessed 17 Apr. 2017.
Patil, B. B., R. Bell, G. Brice, S. Jeffery, and S. P. Desai. "Distichiasis without Lymphoedema?"
Nature News. Nature Publishing Group, 26 Mar. 2004. Web. 17 Apr. 2017.
"FOXC2 Gene – Genetics Home Reference." U.S. National Library of Medicine. National Institutes
of Health, n.d. Web. 17 Apr. 2017.
"Autosomal Dominant." MedlinePlus Medical Encyclopedia. N.p., n.d. Web. 17 Apr. 2017.
Brooks, B. P., S. L. Dagenais, C. C. Nelson, M. W. Glynn, M. S. Caulder, C. A. Downs, and T. W.
Glover. "Mutation of the FOXC2 Gene in Familial distichiasis." Journal of AAPOS : The Official
Publication of the American Association for Pediatric Ophthalmology and Strabismus. U.S. National
Library of Medicine, Oct. 2003. Web. 17 Apr.

Informative Speech On Klippel-Fel Syndrome
Today I will be discussing Klippel–Feil Syndrome. I will discuss how the disorder is passed on,
what genes it affects, and what it does to the body. I will then present information to be passed on to
family members that may have the disorder or carry the gene to pass on to their children. Klippel–
Feil Syndrome is the genetic anomaly I chose because I honestly did not know much about it. My
mother was born with numerous severe and mostly rare birth defects. Many of them have a genetic
aspect, so when my sisters and I had children we had to visit a genetic specialist. Klippel–Feil
Syndrome is a rare disorder, first reported in 1912 by Maurice Klippel and Andre Feil (The Facts,
n.d.). It primarily presents as fusion between at least two bones of the cervical spine, the part of the
spine in the neck. Symptoms are typically a shortened neck, limited mobility of the head and neck,
and lower hairline on the posterior side. However, there are different classes of the disorder and not
all of these are present in each class. It is a congenital disorder, so affected people are always born
with it, but it can go unnoticed until later in life. One case study reports a four year old girl
presenting with recurring neck pain, and it was then discovered she had Klippel–Feil (Buonuomo et
al., 2014). Klippel–Feil also can present with numerous other issues, such as scoliosis, spina bifida
occulta, Sprengel's deformity, absent ... Show more content on Helpwriting.net ...
However, I see now that it is a rare disorder. Due to the rarity, finding more information about
Klippel–Feil and the Sprengel's deformity that can go along with it is not an easy task. As I
mentioned, common symptoms are a shortened neck, problems moving the neck, a hairline that
comes down further than is typical onto the neck, and a raised shoulder blade. A wonderful resource
I found to help educate people is the National Organization for Rare Disorders, as well as the KFS

The Problem Of Obesity Is A Great Concern As Children With...
The problem of obesity is a great concern as children with SMS become adolescents. In an article by
Wills in the Pediatric Physical Therapy Journal (2004) cardiovascular conditions, diabetes mellitus,
sleep apnea, spinal complications, and specific types of cancer are problems associated with obesity
not only in adults but also in childhood, increasing the probability of children with SMS to develop
additional systemic conditions, and orthopedic problems. Per the Physical Therapist's Guide to
Obesity (APTA, 2016), 10% of children 2–5 y/o, 15% of children 6–11, and 16% of our adolescents
in our nation are overweight. PT's are called to fight that epidemic trend by promoting active
lifestyle patterns and wellness programs. New APTA ... Show more content on Helpwriting.net ...
A lot has to be learned about SMS, however, molecular analysis of the RAI1 gene, could be
promising in the development of SMS Clinical Prediction Rules by using mutation prediction
programs such as POLYPHEN, PANTHER, and PMUT. In a research conducted by Vilboux et al.
(2011) two SMS clinical features demonstrated noticeable relationship to the RAI1 mRNA levels:
ocular anomalies (Mann –Whitney Z= – 2.35; p=0.0188 and object insertion (Mann –Whitney Z = –
2.21; p=0.03.)
Summary Statement
Smith –Magenis syndrome is a developmental disorder resulting from a genetic change during the
formation of the reproductive cells or the initial development of the fetus, requiring a
multidisciplinary and comprehensive approach with physical therapy services assuming an
important role. Physical therapists are expected to incorporate elements of pharmacology, health
policy, evidence based practice (EBP), diagnostic, imaging, differential diagnosis and professional
integration presented in this project when developing their interventions for children with SMS.
It is expected from this project to develop interest among clinicians, educators, and
parents/caregivers to learn more about the implications of SMS in children diagnosed with this
disorder and to recognize the need for continuing unlocking their potential by pursuing the best
therapeutic and educational management possible.
Project Strengths and Weaknesses
Strengths
The children that originated this project constituted the

Case Study: The Kennedy Disease
Kennedy Disease
Kennedy disease that is progressive neuromuscular "disorder which involves disruptions in the
transmission of nerve cell signals in the brain to nerve cells in the brain stem and spinal cord"
(National Institutes of Health, Bethesda, MD, May 2015). This disease found in males it occurs in
the average age range of 20–50 years old, the symptoms and sign happen abruptly. The
characteristics of this disease could possibly be detected in earlier stages in some cases although the
signs are cramps within the muscles, weakness in the muscle of the male's arms, legs, facial area,
enlarged breasts and he would have difficult with breathing and speaking. It rarely affects females
but it does affect fewer than 1 in 150,000 males it does affect their testosterone levels, and limits
their sexual life.
The disorder takes effect on the male's usage of his limbs (arms & legs) over time the ... Show more
content on Helpwriting.net ...
Loss of that nerve leads to weakness and wasting of the muscle". (Kennedy's Disease Association,
2010–2016) Muscular, would be cramps tightening of large muscle spasms, Thoracic is the male
getting enlarged breasts, Endrocrine, loss of masculinizing effect, and Genito–Urinary, ED (erectile
dysfunction), and low sperm count. Which includes weakness/cramps in the limbs, face, mouth,
tongue muscles are weak, difficult with speech and swallowing, twitching, numbness, enlarged
breasts, and infertility.
"A diagnosis of Kennedy disease is suspected based on physical signs and symptoms. Diagnosis can
be confirmed by molecular genetic testing on a blood sample for CAG trinucleotide repeat
expansion in the AR gene. Individuals with greater than 36 CAG trinucleotide repeats in the AR
gene are diagnosed with the condition" (National Organization for Rare Disorders (NORD),

Prader Willi Syndrome Essay
Within the couple of hours of my niece Janelle being born, doctors were concerned how little she
was and her slow mobility. Unaware of her condition in Brownsville, she was sent to Driscoll
Hospital in Corpus Christie within a couple of weeks. While being in the care at the hospital,
medical doctors diagnosed Janelle with Prader–Willi Syndrome. As you can imagine, so many
questions and thoughts went through her parent's minds. To start, what is Prader–Willi Syndrome
(PWS)? According to Genetic Home Reference, PWS is a complex genetic condition that affects
many parts of the body, such as muscle tone, insatiable appetite, intellectual impairment, and
learning disabilities. Which Janelle experiences these abnormalities and we have to take
precautionary actions on a daily basis. It is a rare disorder present at birth and we can do nothing to
prevent this and ... Show more content on Helpwriting.net ...
Another study states, PWS affects one out of every 10,000 births to 30,000 people globally and
affects both males and females of all races and ethnicities ("What is Prader–Willi Syndrome, n.d.").
In addition, people with PWS have a loss of active genes in the region chromosome 15.
Furthermore, USA Prader–Willi Syndrome Association (USAPWSA) explains, "In PWS, these
critical genes are either missing (deleted) from the father's chromosome 15, functioning improperly
because of an imprinting defect, or the entire chromosome 15 from the father is missing and both
chromosome 15s come from the mother." This complication happens randomly, either during
reproductive or embryo development. For instance, our family has no history of obesity or these
other complications, yet my niece Janelle has a behavior issue, developmental disorders, and has
been diagnosed obese as well as having diabetes type 2 this

Niemann-Pick Research Paper
Niemann–pick disease is a developmental disorder in which sphingomyelin accumulates in
lysosomes in cells. These lysosomes are normally used to transport material through the cell.
However, the disorder involves a dysfunctional metabolism of sphingolipids. Niemann– pick is
divided into three different types; A, B, and C. Types A and B occur when cells in the body do not
have an enzyme called acid sphingomyelinase (ASM). This enzyme helps break down a fatty
substance called sphingomyelin, which is found in every cell in the body. Since the Acid
Sphingomyelinase enzyme is dysfunctional, sphingomyelin usually builds up in the cells and in turn
kills the cells by making it harder for the organs to work properly. For the third type of Niemann–
pick, type C, occurs when the body cannot break ... Show more content on Helpwriting.net ...
Other symptoms include loss of function of nerves, the brain, and other organs. The reason
Niemann–pick is such a terrible disease is because there is currently no treatment that has been
proven to cure the children affected by this disorder. However, funding will need to be given
because there is a new hope for a drug called Zavesca for those battling this crippling disease. An
international study in which the drug was taken for two years has been showing improvement for
neurological symptoms which is why we should invest more money into the research needed to help
the 1 in 250,000 people that are affected. There are several organizations committed to helping the
families such as the National Niemann–Pick Disease Foundation, Inc., National Organization for
Rare Diseases, or NPUK.org. Something I would like to understand better about Niemann–Pick
disease is, why does it only affect certain minority groups from certain parts of the world? For
example, type C mainly affects occurs more frequently in people of French–Acadian descent in
Nova

Classic PKU: A Case Study
"Most cases of PKU are detected shortly after birth by newborn screening, and treatment is started
promptly. As a result, the severe signs and symptoms of classic PKU are rarely seen, " according to
U.S. National Library of Medicine. PKU is a rare disorder, that's detected after birth from newborn
screening, and treatment starts promptly, but if not treated promptly, it can lead to severe symptoms.
It's treatable through a diet, symptoms vary from mild to severe like: intellectual disabilities to brain
damage. PKU is a treatable disease that involves a diet with low phenylalanine. Its an inherited
disease that increases the levels of phenylalanine in the blood. There is a long–term outlook for
patients with PKU when it's excellent. Many organizations

Smith Magenis Syndrome Research Paper
Smith– Magenis syndrome, or often referred to as SMS, is a developmental disorder that affects
multiple organ systems within the body. SMS is a very rare disorder. "Although the exact incidence
is not known, it is estimated that SMS occurs in between 1 out of every 15,000 and 25,000 births."
(Prisms) It is said to affect people of all ages. (SMS Research) This syndrome is shown through
many abnormalities which are visible at birth. This includes cognitive, physical, and even behavioral
differences. The history of SMS begins with Ann Smith, who was then a medical geneticist by then,
was the first one who described the syndrome way back in the year 1892. While Ellen Magenis, who
was a cytogeneticist, was the one who outlined the clinic spectrum ... Show more content on
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PRISMS, which stands for Parents and Researchers Interested in Smith–Magenis Syndrome, is a
very beneficial organization. They have information for parents, educators, and even researchers.
The webpage gives educational information regarding what the disorder is, how its diagnosed, the
symptoms to look for, etc. Another educational resource regarding SMS is the SMS Research
Foundation. This is an organization that you can read personal stories from or about someone living
with SMS. It even benefits the study and treatment of SMS because you can donate to the
foundation if you wish. This organization also explains the diagnosis of Smith–Magenis and what it
means. NORD, National Organization for Rare Disorders, is an also a helpful resource because it
included an entire page dedicated to Smith–Magenis and what it is. There are many different
websites that will educate you with everything you need to know about this disorder. Parents as well
as educators should consider some of these to appropriately make sure that a person with SMS has
all their needs met at both home and

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

My Personal Vision Self-Assessment
On the My Personal Vision Self–Assessment, I answered eight of the ten questions as "mostly true,"
which was above the cutoff score of more than seven "mostly true" answers that indicate that I am
currently in "great shape" when it comes to the development of my personal vision. As the textbook
mentions, coming up with an individual vision or mission is often a difficult challenge, although the
work that goes into the actual achievement of one's vision may be even harder. However, I'm already
ahead of most people on this assignment since I have been continually working on my personal
vision statement since I first started getting into patient advocacy and blogging. Below is an updated
version of the vision that I have for both myself and for

Otherwise Called Nyhan 's Syndrome
Lesch–Nyhan Syndrome, otherwise called Nyhan's syndrome, hypoxanthine–guanine
phosphoribosyltransferase (HPRT) deficiency or juvenile gout, is a rare hereditary disorder that
affects almost exclusively males at a very young age. Thereby, they develop neurological and
behavioral abnormalities–physical handicaps, mental retardation and abnormal involuntary muscle
movements– and the overproduction of uric acid. This paper will outline the Lesch–Nyhan
syndromes genetic and metabolic components, symptoms and signs, how and when a patient should
present to a physician, what makes the physician think that a patient has the disease, how it is
diagnosed, the treatment and/or cure, and its longevity. The history of Lesch–Nyhan syndrome
began first when it was discovered or recognized by Michael Lesch and William Nyhan. Michael
Lesch and William Nyhan supplied the first detailed clinical characterization of Lesch–Nyhan
disease in the year 1964 (H A Jinnah, 2015). Additionally, the deficiency of the enzyme
hypoxanthine–guanine phosphoribosyl transferase was observed by Seegmiller and associates in
1967 (H A Jinnah, 2015). Lesch–Nyhan Syndrome is genetically caused due to the deficiency of
hypoxanthine–guanine phosphoribosyl transferase or the HPRT1 gene mutation. The complete or
acute deficiency of HRPT leads to this Lesch–Nyhan syndrome. The gene mutation is located in the
X chromosome. The HPRT gene is found on the long arm of the X chromosome and the amino acid
coding for HPRT is

Rasmussen's Encephalitis Research Paper
"Rasmussen's Encephalitis is a rare chronic inflammatory neurological disease that usually affects
only one hemisphere of the brain." (What is Rasmussen's Encephalitis:
http://www.ninds.nih.gov/disorders/rasmussen/rasmussen.htm). It is more commonly found in
children 10 years of age or younger, and is described by seizures, loss of speech and motor skills,
hemiparesis, inflammation of the brain, and mental deterioration. Patients with Rasmussen's
Encephalitis will have progressive brain damage in the affected hemisphere, and is accompanied by
seizures. Rasmussen's Encephalitis will have permanent, but stable neurological deficits by the first
8–12 months of diagnosis. There are currently minimal treatments, but the progression of the
research ... Show more content on Helpwriting.net ...
The website is fairly easy to navigate and is easy on the eyes. The page is laid out in a very
organized fashion, where few clicks are necessary to find the detailed information you are looking
for. The page provides plenty of information regarding the disease you are researching, such as links
to publications, organizations, news, research literature, and clinical trials. There are no fees or
special software needed for this specific website. The page was prepared by the National Institute of
Neurological Disorders and Stroke, but does not provide contact information. However, it does
provide valuable links and contact information to organizations that are more familiar with that
particular disorder. The page was last modified on December 19, 2011, which seems a bit outdated.
This website is of great value to anyone wanting to research specific neurological

Myotonic Dystrophy Type 1 Research Paper
When people think about a mutation or a genetic disorder, they often tend to think about fictional
like characters such as a half beast half man scenario. However, genetic disorders and mutations are
simply just mistakes in the genetic code. These mistakes can be so minor that it has no effect on you
whatsoever, or they can be a major problem. Myotonic dystrophy type 1 is one of those genetic
mistakes that has a huge impact on the way you live your life. Myotonic dystrophy type 1 is a type
of multisystem disorder that cannot be caught, but is genetically inherited. Myotonic dystrophy type
1 has to do with a special gene and chromosomal problem, with very severe, rare symptoms, and it
has a major impact on life.
First of all, what is myotonic ... Show more content on Helpwriting.net ...
The symptoms are also effected by the age of the carrier. If an adult is experiencing muscle
weakness especially in the leg, hand, neck, and face, and myotonia, which is uncontrollable
contraction of muscles, they should be suspected of having DM1. If a newborn has hypotonia, facial
muscle weakness, general weakness, positional malformations, or respiratory insufficiency, it should
also be suspected of having DM1. Many testes are available to be able to determine if you have
DM1. Some tests include electromyography, serum CK concentration, and a muscle biopsy.
Checking allele sizes also help to determine whether or not you are positive for DM1.
Unfortunately, since the disorder is rare, it is very difficult to predict a prognosis on it. "Non–
molecular testing that has been used in the past to establish the diagnosis of DM1 currently has little
role in diagnosis and is primarily used if molecular testing of DMPK does not identify the CTG
repeat expansion and other myopathies are being considered." (Thomas D. Bird).
Living with DM1 usually has a major impact on your life. In some cases, you can be a carrier of
DM1 and not be affected at all by it. But, in the majority of cases, it really puts a damper on life.
"Some people may experience only mild stiffness or cataracts in later life. In the most severe cases,
respiratory and cardiac complications can be life threatening even at an early age. In general, the
younger an individual is when symptoms

The Disease Of Behcet 's Disease
In 1937, a rare disease called Behcet 's Disease (BD) was first described by Dr. Hulusi Behcet, who
is a dermatologist in Turkey. The disease is also known as Behcet 's syndrome and described by The
American Behcet 's Disease Association (2014) as "a rare, chronic, autoimmune, autoinflammatory
disorder" (American Behcet 's Disease Association [ABDA], 2014). The disease, recognized
worldwide, can affect multiple systems in the human body and associated with morbidity and
mortality. Dr. Hulusi Behcet (2014) first described the disease as "a triad of oral ulcers, genital
ulcers and ocular inflammation" (ABDA, 2014). The epidemiology behind this disease indicates its
prevalence in multiple countries. It is less prevalent in the United States and Western Europe.
According to National Organization for Rare Disorders (2015),the highest prevalence rate, 80–370
cases per 100,000, of this disease is in Turkey, as well as in Japan, Korea, China, Iran and Saudi
Arabia (National Organization for Rare Disorders [NORD], 2015). According to the National
Institute of Arthritis and Musculoskeletal and Skin Disease, the disease affects more men than
women in Middle Eastern and Asian countries. However, it affects more women than men in the
United States (National Institute of Arthritis and Musculoskeletal and Skin Disease [NIAMS],
2015). It can develop in people of all ages but it tends to develop in people between the ages of 20 to
40. The Behcet 's disease symptoms vary from person

Sam Berns: The Progeria Research Foundation
The Progeria Research Foundation was founded by Dr. Leslie gordon and Dr. Scott Berns who
found out their son Sam Berns was diagnosed with Progeria just shy of his second birthday. It was
then when these two doctors who never heard of the disease either, were informed and started doing
research on behalf of their son, Sam. They quickly found out that the condition was so rare there
was no where for the victims to go, no medical help, no place for parents of the children to console
and no source of funding for researchers who were trying to research Progeria. This lack of
information that had desperately became reality for this doctoral family became the fuel behind their
inspiration to change the lack of funding, support and awareness. National ... Show more content on
Helpwriting.net ...
Standing in a room full of children affected by the disease, you would think they all were all
brothers and sisters because they all share the same characteristics and look respectably identical.
The rapid growing of their body puts stress on the body that allows them to pass away from heart
attacks and strokes early as the age of four but overall the average death age for children living with
Progeria is thirteen (Biotech,2009). After diagnosing and studying Progeria in children, German
scientist, Otto Werner discovered Adult Progeria, which was named after him called, Werner's
Syndrome. Too like Progeria in the children, the same effects but in adults starting as early as the
age of twenty–one. Werner's Syndrome classified by the development of a distinctive high pitch
voice, cataracts in both eyes and a number of health problems that stem from the disorder. During
teenage years one may not even appear to have symptoms of this particular condition, however by
the early twenties, it is more obvious. This disorder has commonly been identified in Japan

Chiari Research Paper
Throughout researching Chiari, I have learned that Chiari is not only rare, but research is limited. In
my essay I have defined key components of Chiari and it affects. I looked at who has chiari, why
they have it and how they cope with it. Chiarians around the world have come together to find find a
cure and I believe that with further research and investigation, not only a cure can be found but also
a diagnostic test. The history of Chiari goes back all the way to the 17th century. That's when reports
were first published of hindbrain herniation. Hindbrain herniation had only been seen in the
presence of patients with myelomeningoceles. According to The Chiari Malformations, Hindbrain
herniation was found alone in 1881 by Langhans. 10 years ... Show more content on Helpwriting.net
...
Hydrocephalus is when CSF (cerebrospinal fluid) builds up in the brain, causing increased pressure
in the brain. The pressure can cause mental defects and possibly a misshapen skull. Hydrocephalus
can occur with any other type of Chiari but it is most often seen with Type II. Severe Hydrocephalus
can be fatal if left untreated. Spina Bifida occurs when the spinal cord is either incomplete or
underdeveloped. Spina Bifida is most commonly associated with Type II. Syringomyelia is a
buildup of CSF, which forms a synix, or a fluid cavity. The growing synix destroys the spinal cord
which results in pain and weakness. Other symptoms include, stiffness in the back and shoulders,
and loss of extreme feelings of cold and hot. Tethered cord syndrome is another syndrome related to
Chiari.Tethered cord syndrome is the attachment of the spinal cord to spine. This disorder can cause
permanent damage to the lower bodies muscles and nerves. Spinal curvature is commonly
associated with type I Chiari. It is seen most commonly with children whose spine is
underdeveloped. According to Conquer Chiari, 60–70% of Chiarians struggle with sleep apnea. A
person with sleep apnea stops breathing in their sleep and then wakes up breathing again.
Decompression surgery decreases sleep apnea occurrences by 90%. According to The National
Organization

Prenatal Testing Before Birth
Prenatal testing detects changes in a fetus' genes or chromosomes before birth. This specific type of
testing during pregnancy can help parents make decisions about a pregnancy, but cannot identify all
possible disorders or birth defects. (Campbell, Reece, Mitchell). It is one of the most basic genetic
tests. Another form of genetic testing done before birth is called preimplantation testing, or
preimplantation genetic diagnosis (PGD). Its purpose is to detect genetic changes in embryos that
were created outside of the body, such as in–vitro fertilization, where eggs are fertilized outside of
the body. In this case, cells are taken from these embryos and tested for specific genetic changes that
are indicative of a genetic disorder. Only ... Show more content on Helpwriting.net ...
In the future, medical professionals hope to be able to treat or even eradicate a disorder by inserting
a new gene into the cell via drug or surgery that will combat or even fix the mutation in the DNA
that causes that disease. This therapy is still in the very early stages of experiments, and the ethical
questions surrounding it prevents much progress from being made at all. There are many potential
health complications surrounding this type of approach: scientists still do not completely understand
how genes work and if they can be replaced. CRISPR will be a major tool used in gene therapy.
CRISPR, which stands for , is a unique technology that lets geneticist and medical researches edit
part of the genome by pinpointing a certain area of DNA and adding DNA, removing DNA, or
altering the DNA sequence (Your

Global Down Syndrome Foundation
The Global Down Syndrome Foundation Is a public, non– profit organization that is a resource for
Down syndrome and is involved in research medical care an education and advocacy of people with
the condition. The organization provides information on the history of the condition including
revolutionary genetic testing and advances in testing. The foundation also provides resources for
pregnant mothers, families, medical personnel and educators.
The foundation provides detailed history about the syndrome, history, statistics and advances in
genetic testing . Down Syndrome was named after John Langdon down, an English doctor, who
classified Down syndrome features. Down Syndrome is a congenital genetic disorder, characterized
by three copies ... Show more content on Helpwriting.net ...
Pregnant women of advanced maternal age, during routine prenatal care, are offered genetic
screening and testing for chromosomal anomalies. Misconceptions exist with genetic testing. Many
women are misinformed about the risks of testing. The fear of testing, implications, results and
miscarriage exists in many women. The Global Down Syndrome Foundation and the National Down
Syndrome Congress in an effort to provide comprehensive information to women, created the Down
Syndrome Prenatal Testing Pamphlet., a commonly used resource. Risks are generally associated
with advanced maternal age, already having a child with the condition and being carriers of the
genetic translocation for down syndrome. The global Down syndrome foundation addresses
common misconceptions surrounding people with down syndrome relating to their physical and
mental capabilities, and early demise. Common misconceptions affecting the family unit listed and
addressed by the foundation include the potential of a ruined marriage and potential for down
syndrome children to negatively impact siblings. Patient education and informed consent are
required before genetic testing can

Essay about Sandhoff’s Disease> Tay Sachs
"The carrier rate for Tay–Sachs in the general population is 1/600" (OMIM). Sandhoff Disease is a
rare genetic disorder, and it is a severe form of Tay–Sachs that progressively destroys cells in the
brain and spinal cord. Since its discovery and analysis of inheritance, there have been advancements
of its diagnosis, treatment, research, and its support resources for affected families. Those affected
individuals lose motor skills and function of other body parts. As the disease progresses they
experience seizures, vision/hearing loss, mental disability, paralysis, and a cherry red spot on the
eye. This leads to loss of coordination, alertness, and respitory health. The disease has three forms
infantile, juvenile, and late–onset. In infants ... Show more content on Helpwriting.net ...
It is available when both members of a couple are carriers. These tests can also be used to screen if
you are a carrier of the disorder. Although there is no cure for Sandhoff, there is treatment. These are
used to manage symptoms and pro–long life expectancy." Supportive treatment includes proper
nutrition and hydration and keeping the airway open. Anticonvulsants may initially control seizures
(NINDS)". As a result of research there are more experimental treatments. For example, children
can receive transplants of stem cells from an umbilical chord. Another way is through gene therapy;
which is done by "restoring the missing enzyme by introducing the correct genetic code so proper
enzyme production can occur (NTSAD). " Due to further research attempts, after diagnosis, there
are ways to treat and manage symptoms to provide comfort. There are various support programs that
help the families affected by this disease. The National Tay–Sachs & Allied Diseases (NTSAD) can
help patients understand diagnosis, management options, updates on research efforts, and connect
with other families. They provide information for in–home and outside services for patients. Also,
there are online and outside support groups that help families relate. This provides comfort and ease
on dealing with the disorder. Additionally, the National Institute of Neurological Disorders and
Stroke (NINDS) support the additional research through grants

: Lionel Messi's Growth Disorder?
Lionel Messi's Growth Disorder Lionel Messi the soccer player who is diagnosed with a growth
disorder. Messi had a growth disorder, and was still able to become a professional soccer player.
There was a time when Lionel Messi's life was hard. A growth disorder is a disorder that prevents a
child reaching their initial height during their entire lifespan (Peak 13). Nevertheless, some
symptoms of a growth disorder usually deals with the height or the growth of the child. A child with
a growth disorder can grow much faster or slower than a normal child. At birth a child who has a
growth disorder would have an unusual birth weight. This happens when the heredity is having
problems functioning the growth system. The heredity is one of the most important things that help
develop the body's growth (12). The disease that can affect someone for their entire life. The growth
disorder can affect someone's life by size. There are causes to this such as, the genetic mutations in
the body are damaged, the genetic mutations occur in the genes. Now when the genetic mutations
are damaged, it could mean that the mother during birth was doing drugs or drinking alcohol during
pregnancy (Peak 13). However, when the mother receives an ultrasound, it will create an image of
the internal tissues and organs, that can detect if something is happening. The second cause could be
a physical cause. In any case of when someone obtains a growth disorder, physically, they are either
doing things such as

Research Paper On Muscular Dystrophy
Muscular Dystrophy also known as MD, is known in many forms. Between those many
forms, the symptoms and signs change. All together there are a total of nine different types of
muscular dystrophies. These can either be born with or you can have the gene for it or not show
up till later in life. Muscular Dystrophy has many different types of forms and how they can
either be "cured" or slowed down and how doctors can and cannot tell which muscular dystrophy
is which by just the signs and symptoms that the patient has and how they diagnose someone
with muscular dystrophy.
With the very many types of muscular dystrophy, it is relatively challenging to diagnose
a specific one. Some of the more common types are: Congenital Muscular Dystrophy ... Show more
content on Helpwriting.net ...
We say "normal" as a meaning of
a human who does not have any form of a muscular dystrophy whether they are a carrier or not.
7 Joiner
And which a carrier means that they do not physically have it but they have a gene for it.
"Limb–girdle muscular dystrophies (LGMD) are a group of rare progressive genetic disorders
that are characterized by wasting (atrophy) and weakness of the voluntary muscles of the hip and
shoulder areas (limb–girdle area)." (National Organization for Rare Disorders). Genetic disorders
means that the patient has something wrong within their DNA. With it being the DNA sequence,
it might or might not be a challenging cure or not. "LGMD is a genetic disorder that is inherited

as either an autosomal recessive or dominant trait." (National Organization for Rare Disorders).
Which dominant means that it will show up in the offspring if one of the parents supplies that
gene. Recessive means that it might or might not show up, it depends if there is a dominant of
that gene supplied or not. If there is no dominant gene showing up, then they will show through
the genes. If there is a dominant gene that shows up, then the recessive will not show up but

Rickets Disease
Rickets/Osteomalacia is a disorder involving the softening and weakening of a child's bones,
primarily caused by lack of vitamin D and or lack of calcium or phosphate. According to The Mayo
Clinic, vitamin D promotes the absorption of calcium and phosphorus from the gastrointestinal tract.
A deficiency of vitamin D makes it difficult to maintain proper calcium and phosphorus levels in
bones, which can cause rickets. Adding vitamin D or calcium to the diet will generally correct the
bone problems associated with rickets. Rickets should not be a single minded focus regarding a
child's diagnosis, but other underlying medical treatment would be needed. Some skeletal
deformities caused by rickets may require corrective surgery."
The symptom ... Show more content on Helpwriting.net ...
Recent analysis show that hospitalization rates for rickets has reach an high in other countries. Many
modern clinicians in developed countries have little experience in management of the condition on
rickets. Benjamin Jacob wrote Is Single Oral Dose of 300,000 IU D3 Adequate for Treatment "The
study published in this issue helpful in highlighting the efficacy of a simple single dose regimen and
show that the lower dose of 300,000 units is not inferior to double this dose.(Jacob) In the study
many children are treated with the same dose by intra muscular injection which is painful. The
practice of the injecting with vitamin D should stop rickets associated with severe malabsorption
and where even high oral doses are

What Is Xyy Syndrome?
Imagine being a kid, going to school and struggling a little more than everyone else. You're the
tallest in your class, and different than your friends. You can't pronounce words as well as they can,
and they can't really understand you. You have to have special classes to help with your learning
disabilities. These things describe XYY Syndrome, also known as 47, XYY Syndrome; Jacob's
Syndrome; XYY Karyotype; and YY Syndrome. (NORD). It is a genetic disease in which males
have an extra Y chromosome due to an error in cell division.
Definition and effects on the body XYY Syndrome is a genetic disease where a male has an extra Y
chromosome. This could then lead to an increased risk of learning disabilities.(Genetics Home
Reference). XYY Syndrome ... Show more content on Helpwriting.net ...
This symptom is usually more noticeable around the ages of five and six, with an average adulthood
height of 6 feet, 3 inches. (NORD). Other physical symptoms consist of hypotonia or weak muscle
tone, delayed motor skills, hypogonadism or low testosterone levels, delayed or absent puberty, and
weak bones. (Healthline) On the other hand, males with XYY Syndrome have normal intelligence,
but on average have a 10 to 15 points lower IQ than their siblings. 50 percent of cases have also
reported learning disabilities, such as speech delays and language problems. (NORD). Other
symptoms are attention difficulties, and emotional or behavior issues. (Healthline) The life
expectancy of a male with XYY Syndrome is about 10.4 years less than the average. Males with
XYY Syndrome on average have a life expectancy of 67.5 years compared of the normal 77.9 years.
(PMC)
Cause of the disorder Normally males have 46 chromosomes which include one X and one Y
chromosomes, but males with XYY Syndrome have 47 chromosomes, two of which are Y
chromosomes. Most cases of XYY Syndrome occur before conception due to a cell division error in
the sperm. Rarely does the cell division error happen after conception.

Robinow Syndrome Research Paper
Robinow Syndrome Research There are so many types of diseases and disorders in this world. Some
can lead to a lifetime of pain and others can lead to mortality. Robinow syndrome is a disorder that
affects few people. This rare disorder is inherited to the fetus by the parents. This disorder comes in
dominant form and recessive form. In dominant form you inherit the gene from only one of the
parents. In recessive form you inherit the gene from both parents. In the recessive form the
syndrome comes from mutations in the ROR2 gene. In the dominant form the syndrome is caused
by the mutations in the WNT5A or DVL1 gene. The genes affect the development of the patient in
its first years. Robinow syndrome affects both male and females. They have ... Show more content
on Helpwriting.net ...
One test that can be done is an ultrasonography that creates and image with sound waves and the
physician can locate characteristics that can lead to the diagnosis of Robinow syndrome. Usually
physicians don't realize patient has Robinow syndrome until the baby is born and they notice all the
physical defects. They can then have patient do x–rays and then they can confirm the signs and
symptoms to diagnose patient. Genetic testing is another type of test that can be done because this
syndrome is a genetic disorder that is linked to gene mutation and is inherited by parents this can be
done during the prenatal term or after baby is born. Treatment for Robinow syndrome requires
different types of specialist because patients have many sign and symptoms and this syndrome
affects many parts of the body. The types of specialist required for treatment are pediatricians,
surgeons, orthopedists, cardiologists, physical therapist and more. All of the patient's specialists will
have to work together to make a plan to treat patient so that they make sure the patient is getting the
best treatment. In most cases surgery is one of the best choices for treatment. Surgery can be used to
fix underdevelopment of the genitals for patients with this syndrome and it can also help fix some of
the vertebral abnormalities and other abnormalities of the skeletal system. For vertebral
abnormalities they can also be treated with casts, braces and physical therapy. Patients can also be
treated with growth hormones for growth retardation. This treatment can increase significantly the
growth rate of the patient. Patients should be monitored frequently for treatment of any heart defect
and also for infections to the lung that can lead to pneumonia that can then lead to mortality of
patient. Patient should be treated for all abnormalities right away. This assures that patient will be
able to live to his or hers full potential. I believe physical

How To Write A Cat Eye Syndrome Essay
Danny Remishevsky
Mrs. James
Honors Biology
5/5/17
Cat Eye Syndrome
Cat eye syndrome is a very interesting chromosomal disorder. At first glance, people may even think
it cool and wish that they had it. Cat eye syndrome's main distinguishing feature is that it makes the
eye resemble that of a cat. But cat eye syndrome is much more than just having a cat's eye, there are
many other symptoms, some people have mild cases while other have more severe symptoms. One
of the most famous symptoms is ocular coloboma also known as the cat eye. During development of
someone with cat eye syndrome or CES, the patient's eye tissue isn't fully developed so it causes a
gap usually in the iris. For someone with CES, this makes the iris look a bit like a keyhole ... Show
more content on Helpwriting.net ...
More specifically 22pter–q11. Cat Eye Syndrome is not necessarily an inherited disorder. It is
acquired during a mutation of an egg or a sperm cell. And a person that has CES also has the chance
of passing it on to their children although it is usually only passed down from carriers. As WebMD
says, "Cat eye syndrome can't be cured because it's caused by a permanent change to a chromosome.
But many of the symptoms can be treated." ("What is Cat Eye Syndrome – Treatment" 2016). For
some people who have minor symptoms, surgery will be an option. Anal atresia is fixed with
surgery when a baby is born, heart defects and cleft lips also require surgery. Because Cat Eye
Syndrome has many symptoms and not everyone has every symptom, a CES patient would have to
talk to a medical professional for each symptom they have. Include people who specialize in the eye,
digestive, and heart problems. Another useful treatment is counseling, people with CES could
benefit greatly learning about how the condition affects them and patients who want to have children
should talk to genetic councilors as well. Since CES can also affect childhood development, social
skills and education specialist would help children living with CES. The cat eye associated with Cat
Eye Syndrome is one of the symptoms that cannot be

Aicardi Syndrome
Aicardi Syndrome Aicardi Syndrome is a spontaneous genetic mutation that affects the X
chromosome, meaning that it is almost exclusively seen in girls ("Aicardi syndrome – NORD
(national organization for rare disorders)," n.d.). The three main characteristics of Aicardi Syndrome
are agenesis of the corpus callosum, chorioretinal lacunae (holes in the retina), and seizures
("Aicardi syndrome – NORD (national organization for rare disorders)," n.d.). Signs and symptoms
include muscle spasms, epilepsy, intellectual disability, hypotonia, microcephaly, microopthalmia,
colobomas (incomplete development of the retina and optic nerve), musculoskeletal abnormalities
("Aicardi syndrome – NORD (national organization for rare disorders)," n.d.), Hypertonia

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