Cardiofaciocutaneous syndrome is a very rare and serious genetic disorder that generally affects the heart, facial features, and skin of an individual. It is caused by a desultory gene mutation, which takes place in one of four genes. Those genes are known as BRAF, MEK1, MEK2, and KRAS. From research, it is also suspected there is a possibility that other genes are associated with the rare condition. This disorder holds multiple alternative names, a long history, obvious symptoms, extensive amounts of interesting data, and is lucky enough to be supported by numerous organizations that will stop at nothing to help.
This rare genetic disorder has multiple alternative names. The shortest one is referred to as CFC syndrome, but the other two are just as long as the original term for the disorder. They are known as Cardio-facial-cutaneous syndrome and Facio-cardio-cutaneous syndrome. It was first construed in the year of 1986 by J.F. Reynolds and associates at two places; the Shodair Children’s Hospital in Helena, Montana and the University of Utah. Its explanation was concluded from the examination of eight unrelated patients who all shared many of the same characteristics. They all had psychological disabilities and analogous aberrations in their appearance of their face, hair, skin, nails, and heart.
Cardiofaciocutaneous syndrome may be generated through various genetic mutations. As mentioned before, there are four genes that can cause this condition to be brought about in an individual. The most frequent mutation of these is the BRAF gene, because it is responsible for approximately 75 to 80 percent of each case of the syndrome. The two genes, MEK1 and MEK2, are very much alike and together are the result of 10 to 15 percent of ...
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...ocutaneous Syndrome." Cardiofaciocutaneous Syndrome. N.p., n.d. Web. 29 Nov. 2013. .
"Cardiofaciocutaneous Syndrome Health Article." Cardiofaciocutaneous Syndrome. N.p., n.d. Web. 29 Nov. 2013. .
"CFC International - Services." CFC International - Services. N.p., n.d. Web. 29 Nov. 2013. .
"Children's Health." Cardiofaciocutaneous Syndrome. N.p., 16 May 2012. Web. 29 Nov. 2013. .
Dictionary.com. Dictionary.com, n.d. Web. 27 Nov. 2013. .
Schepis, Carmelo, Donatella Greco, and Corrado Romano. "Cardiofaciocutaneous (CFC) Syndrome." Australasian Journal of Dermatology 40.2 (1999): 111-13. Print.
Arch Dermatol. 2007;143(1):124–125. Puchenkova, S. G. (1996). "
FOP occurs randomly and is not inherited. Experts believe that one cause of fibrodysplasia ossificans progressiva is born with mutations in the ACVR gene what provides the body with instructio...
Barone, Eugene J., Judson C. Jones, and Joann E. Schaefer. "Hidradenitis Suppurativa." Skin Disorders. Philadelphia: Lippincott Williams & Wilkins, 2000. 21-25. Print.
ACH, is an interesting disease, one that after many years of research still remains a partial mystery. The fact that a single nucleotide on one chromosome can so greatly affect an individual is astounding, especially coupled with the fact that this mutation is so homogenious in genotype and phenotype. With more skeletal dysplasias being connected to FGFR3, research has increased to fully determine and define the pathways involved with this gene. Determining the reason for such a high mutation frequency and the link to paternal age are also being looked into. Once there is more understanding of how this mutation affects the body, treatments and possibly cures can be found for these individuals.
Cardiomyopathy, by definition, means the weakening of the heart muscle. The heart is operated by a striated muscle that relies on the autonomic nervous system to function. Cardiomyopathy is diagnosed in four different ways based on what caused the illness and exactly what part of the heart is weakened. The four main types of cardiomyopathy are dilated cardiomyopathy, hypertrophic cardiomyopathy, restrictive cardiomyopathy, and arrhythmogenic right ventricular dysplasia. One other category of cardiomyopathy that is diagnosed is “unclassified cardiomyopathy.” Unclassified cardiomyopathy is the weakening of the heart that does not fit into the main four categories.
Every one in two thousand people are diagnosed with hereditary spherocytosis. This rare blood disorder is of the Northern European ancestry. The prevalence of hereditary spherocytosis in people of other ethnic backgrounds is unknown (Government). This disease should be detected in early childhood, but in some rare cases it can go undetected for years or never be detected at all. Hereditary spherocytosis not only affects the red blood cells but the spleen as well. It only takes one abnormal gene for a child to have the disease for the rest of his or her life. The disease is a reoccurring cycle, and this rare blood disorder is rare to the minds that do not have the disease, and to the minds that have not studied the disease. Although there is no definite cure a splenectomy will help maintain the disease. The million dollar question is “What is hereditary spherocytosis and is there a cure?”
Capture Myopathy? Not very often a diagnosis is termed liked this, especially in the field of human medicine, especially n the field of cardiology the where the term myopathy is revered as Cardiomyopathy. Myopathy is a disease that affects the muscles and causes weakness due to dysfunction of muscle fibers (1); Cardiomyopathy is of the same circumstance but deals primarily with the heart. Capture Myopathy is relative to many animals, especially mammals and provides a definitive correlation to humans and their potential medical prognosis of Cardiomyopathy. Capture Myopathy is a syndrome that that occurs within captive animals and causes rapid death through excessive adrenaline within the bloodstreams. (3) Capture Myopathy is quite often referred to as white muscle disease, the muscle when used causes a change of metabolism from using oxygen to using the stored energy within the muscle. The change up allows for lactic acid to build up and make its way into the bloodstream where it changes the homeostasis of the body: the body pH and the heart output. In essence, if the heart is inefficiently pumping the correct oxygen to the muscle, the muscle will begin to deteriorate and ultimately lead to damages to the kidney and the effector organs. (2) Animal Capture Myopathy is very relatable to human Takotsubo Cardiomyopathy, and thus this paper will aim to trace how animals are very relatable to humans even through the Cardiovascular System based on normal physiology and stress. (WHAT SHOULD I TALK ABOUT?)
As a child growning up, a lot of you may have had these certain condition. I think these the the normal conditions of a child in general. All children may not experience these certain condition at the same time in life, but I am sure nearly all ch...
Harlequin Ichthyosis is a rare genetic mutation that affects the thickness of the skin. In order for a child to inherit this mutation, both of their parents must be carriers of the autosomal recessive gene. This gene will affect chromosome 2q35 by the deletion mutation. This mutation causes a changes in the ABCA12 gene. This gene produces the ABCA12 protein, which carries lipids to the epidermis of the skin. Without the ABC12 protein, the epidermis will not get the lipids needed to hold the skin together, which in result will cause water lose in the body. Not only is the ABCA12 protein used in the transportation of lipids, it is also a key component in the tissue of many major organs. For example the lungs, liver, and the stomach.
lip, skin folds at the corners of the eyes, indistinct groove on the upper lip, and an
Rosendo is a 32-year-old male who suffers from chronic plaque psoriasis (L40.0), along with psoriatic arthritis. His symptoms include dry, itchy, scaly, large, thick patches of plaques, located on his arms, back, legs, scalp, and behind his ears, as well as experiencing tenderness in the knees and fingers. Rosendo has tried and failed various treatments including triamcinolone, which provided little to no relief. Cosentyx was denied stating that the records sent do not show that he has tried another medication like Methotrexate, Cyclosporine or Acitretin. He is not a candidate for Methotrexate, Acitretin, and Cyclosporine as they have Black Box warnings due to the dangerousness of the side effects causes by these specific treatments, in addition
Hypertrophic cardiomyopathy is an inherited disease that affects the cardiac muscle of the heart, causing the walls of the heart to thicken and become stiff. [1] On a cellular level, the sarcomere increase in size. As a result, the cardiac muscles become abnormally thick, making it difficult for the cells to contract and the heart to pump. A genetic mutation causes the myocytes to form chaotic intersecting bundles. A pathognomonic abnormality called myocardial fiber disarray. [2,12] How the hypertrophy is distributed throughout the heart is varied. Though, in most cases, the left ventricle is always affected. [3] The heart muscle can thicken in four different patterns. The most common being asymmetrical septal hypertrophy without obstruction. Here the intraventricular septum becomes thick, but the mitral valve is not affected. Asymmetrical septal hypertrophy with obstruction causes the mitral valve to touch the septal wall during contraction. (Left ventricle outflow tract obstruction.) The obstruction of the mitral valve allows for blood to slowly flow from the left ventricle back into the left atrium (Mitral regurgitation). Symmetrical hypertrophy is the thickening of the entire left ven...
After the most meticulous testing and review I regret to inform you that your future child will be born with the genetic disorder known as Ichthyosis Vulgaris. The disorder is an inherited skin condition that prevents the body from naturally shedding its dead skin cells. Eventually as time passes those dead skin cells accumulate to create scale like patches on the surface of the skin. The condition is commonly referred to as “fish scale disease” due to the patches appearing similar to that of a fish’s scales.
This mutation is accompanied by a unique phenotype which is characterised by the hypertrophy, or enlargement of muscles as well as the decrease in fat accumulation (Bellinge et al. 2005). This particular mutation not only affects the size of the muscle fibres but also the quantity or hyperplasia (Bellinge et al. 2005). However, it was found that low inhibitors of this gene will cause
Web. The Web. The Web. 18 Nov. 2013. http://www.interbrand.com/en/Default.aspx.