Luke Snyder P.4 Marshall’s Syndrome Marshall’s Syndrome is a rare autosomal dominant genetic disorder. It causes distinctive facial features and limits hearing, smell, and sight based senses. It is caused by irregularities in the COL11A1 gene. Research on the disease is limited. The number of people affected by it is unknown due to little research on the subject. Though the disease causes many problems for the people affected by it, it’s not impossible to live a normal life while suffering from its effects. Life expectancy for those who have Marshall’s Syndrome is unknown. This is once again due to the inadequate amount of research done on the disorder. Though some expect that people affected by Marshall’s syndrome can often live as long
Marfan Syndrome, which is named after Antoine Marfan who first described the disorder in 1896, is a genetic disorder that affects the connective tissues found throughout the body. This syndrome can affect many different parts of the body, but the most commonly affected are the heart, blood vessels, bones, joints, respiratory system, nervous system, and eyes. Thankfully, a person’s intelligence is never affected. Marfan syndrome affects people from all races and ethnic backgrounds, and this often makes it hard to detect. It is a pretty rare genetic disorder affecting only about 1 in every 5,000 people.
This syndrome is inherited in families in an autosomal dominant manner. Since Marfan syndrome is autosomal dominant, people with this disorder can be either homozygous dominant or heterozygous. This means that people carrying even one copy of the altered gene will have the disorder. Mutations of the FBN1 gene has been linked to the Marfan syndrome, although not everyone who has this mutation develops the disorder.
Johnson Munson syndrome will start within the DNA from the formation of the fetus at birth. There are birth defects that cause the variety of disfiguring parts of the body. There for the limbs may not be of proper size and these could consist of a toe or finger missing. The toes and fingers can also be grown together, arms, and legs may not be fully developed. As of today, there is one known risk factor that has been found within the first year of the child’s
Stevens-Johnson Syndrome, a form of Toxic Epidermal Necrolysis, is a rare life-threatening disorder of the skin and mucous membranes which arises from an intense autoimmune sensitivity to mild infections, cancers, and most commonly, medications.
The National Human Genome Research Institute (NHGRI) and the National Coalition for Health Professional Education in Genetics (NCHPEG) have expressed the need for the education of physicians about the ethical, legal and social implications (ELSI) related to Lynch Syndrome assessment, genetic testing and counseling (Metcalf, Tanner, Buchanan, 2010). To address this need, a local medical organization has called upon a health consultant and educator to conduct an educational assessment and training on Lynch Syndrome for primary care physicians and other healthcare professionals in their organization.
Well every beginning must have its end. Now let's not become pessimistic because life is beautiful.With proper treatment he can live a long time and a very fulfilling life and experience ,the beauty that comes along with it. ALD should not make you feel that death is upon your child but rather to enjoy every minute they are by your side.
Marfan syndrome is a genetic illness with significant morbidity and death (1). Prevalence appears to be similar across the world, regardless of gender, and the estimate in the European countries is 1 in 10,000 (2). The average expectancy used to be 32 years, but improved surgery increase life expectancy to approach that of the entire population (3). The level to which individuals are affected differs and those with the syndrome tend to be tall, thin and with long legs, arms, fingers as well as toes (4). It is important to discuss the symptoms, pathogenesis, diagnosis, and management of the syndrome.
Stevens – Johnson syndrome (SJS) is a severe immune response-mediated hypersensitivity reaction to particular drugs or infections that causes rashes, sloughing of the skin, and the disruption of mucous membranes. This condition may affect abdomen, back, breasts, feet, gastrointestinal system, genitals, hands, head, immune system, knees, legs, lungs, neck, nose, reproductive system, respiratory system, urinary system and eyes.
Usher syndrome (USH), an autosomal recessive disorder, is a major health concern in the developing countries and in the United States but no effective treatment of the disease has been reported yet. Of the three subtypes of usher syndrome, USH1 is the most severe form of the disease associated with pre-pubertal onset of retinitis pigmentosa (RP), vestibular dysfunction and congenital profound hearing loss1,4. USH2 is less severe than USH1 characterized with post-pubertal onset of RP, normal vestibular function and congenital moderate to severe deafness1,4. USH3 is the least severe form of the disease having later onset of RP, variable vestibular function and progressive hearing loss1,4. Among these three clinical subtypes, USH2 is the most
Diagnosis of Mallory-Weiss syndrome is made by your specialist amid a complete physical exam. Your specialist will get some information about any therapeutic issues, including day by day liquor admission and late sicknesses, to distinguish the fundamental reason for your side effects.
Marfan Syndrome is one of the most common inherited disorders of connective tissue. Marfan Syndrome is a disorder that happens with your connective tissue. This disease is inherited or caused by a mutation in the FBN1 gene. The most common symptom of Marfan Syndrome is Myopia.
Edwards Syndrome is very unique. It is a genetic disorder that has odd symptoms. Its history is pretty
Prognosis of Marfan syndrome: is often based on normal lifespan, it’s lifelong condition require adequate medical attention. This syndrome is a lifelong disorder that has been improved throughout the years.
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
At the moment they don’t have any research on the life expectancy of Williams Syndrome, but there are still adults who are 60 and are healthy. The life expectancy is thought to be normal but not people with heart disorders. The prognosis varies for each individual because some people learn and do well in school. While others can’t progress that far.