Ectodermal Dysplasias Research Paper

Edward’s Syndrome or also known as Trisomy 18 is a very serious and uncommon disorder, and there are three types of this disorder: Full, Partial, and Mosaic Trisomy 18. Trisomy 18 is a chromosomal condition that affects not only one part of the body, but usually many different limbs. Five to ten percent of the individuals with this disorder can live their lives with it, but they have to deal with severe disabilities. Since Edward’s Syndrome is not common, there are only a few solutions for the disease (Weiss 2012).

A genetic disorder that affects an estimated 25,000-50,000 people in the United States and can be life threatening. This disease causes blisters on the skin but also in the mouth, esophagus, lungs and muscles. Though this disorder is not common it can be mild with little symptoms, disabling, where there are a few problems that may occur or it can be life threatening. This disease is called Epidermolysis Bullosa.

This syndrome is not very common, because it is a rare condition. Its prevalence is not certain, but the proximate amount is 5 to 10 individuals per million newborns. Research workers appraise that there are approximately 200 to 300 individuals around the world who have this disorder. It is observed with equivalent recurrence in both males and females over all ethnic groups.

ectodermal dysplasia, which is a disorder that stops him from perspiring, sparse hair growth and

normally patients with these syndromes were sterile, and Eric had little body hair and had told him he never

There are treatments to make living with this disorder a little easier. Babies born with this need immediate and intensive care in the NICU. Babies born with this are less able to maintain a safe body temperature. They are more prone to fluid loss, dehydration, and life threatening infections. In their first week of life to have any chance of survival they may need: intravenous tubes to deliver fluids and nutrients. They also need monitoring of electrolytes and sodium, lubrication for their eyes if they’re forced open. With having this disorder they have a hard time keeping their body temperatures normal, which means they need help in doing so… They need to be in a high humidity incubator to even maintain a normal body temperature and prevent cracks in their skin. The Doctors can prescribe antibiotics so the infection does not spread any further. Doctor can also prescribe retinoids which is any type of cream to accelerate the shedding of the skins scales. It is an ongoing treatment of keeping the skin moisturized and avoid more scaling or cracking that could lead to more infection. How long do babies diagnosed with this disorder

And this disorder affects the skin, hair and nails. This happened because the layer that is in charge of these things when the fetus was being created failed to develop. Malanie Gaydos, who is a model, has this genetic information she lacks hair, teeth, nails and her skin is very sensitive. She has learned to embrace this disorder and is now living her

Many people are affected by genetic disorders every day. Abnormalities in one’s DNA are what cause a genetic disorder. These disorders could be as little as a mutation in a single gene. In another case, they could be as severe as having an extra chromosome, or taking away a chromosome.

The exact cause of this condition is not known. The condition may be passed down through families through an abnormal gene.

I was born with a birth defect known as Ectodermal dysplasia. Ectodermal dysplasia has over 150 classified types that all have their own effects

EB is a “life threatening” disease (Fallon). It can be inherited from a dominant gene or a recessive gene. A “mutation in the COL7A1 gene” can easily cause EB (Pausch). This deadly disease affects about 50,000 people in the United States. Children with this disorder can “lose fingers and toes” (Ezzell).Sometimes, it can affect lungs, the esophagus, eyes, nails, the mouth, teeth, and muscles. Scientists have discovered 23 types of EB. Scientists at the University of Chicago say that the mutation in the cells’ keratin causes blisters to appear by “weakening keratinocytes” so they get dissolved when they are touched (Ezzell). In other parts of the world, the disease would affect “one in 100,000” people (Fallon).

2. Mutations to RHBDF2 have been linked to the cause of development of this syndrome. This disease is autosomal dominant and will only need one parent to pass on the mutation. They only need one copy of the mutated cell in the genes for it to develop. This disease is characterized by palmoplantar keratoderma and will begin to develop around age ten and then the person will develop cancer after the age of twenty.

A genetic disorder is a mutation in an organisms DNA. It is caused by a change in the sequencing of the nucleotides that make up a specific gene. The genetic disorder can be inherited by offspring, but it may or may not show in the offspring depending on whether the genetic disorder is a dominate or recessive allele. There are many genetic disorders that humans develop and inherit. Some disorders cause improvements within the human species while others cause severe retardation of the human species. In this paper, the genetic disorder Angelman Syndrome will be discussed.

It appears likely that a combination of genetic variations and environmental factors influence the development of this complex condition.

Fibrous dysplasia Inclusion of at least two bones is named polyostotic fibrous dysplasia, a generally rare condition. The account of included bones shifts from a few to 75% of the whole skeleton. At the point when seen with cafe au lait ((coffee with milk) pigmentation, the condition is named Jaffe-Lichtenstein syndrome. Polyostotic Fibrous dysplasia likewise might be joined with cafe au lait pigmentation and different endocrinopathies, for example, sexual precocity, pituitary adenoma, or hyperthyroidism. This condition is known as the McCune-Albright