Analysis And Description Of Ehlers Danlos Syndrome

2197 words - 9 pages

There are more than ten inherited disorders within Elhers-Danlos syndrome. Ehlers-Danlos syndrome (EDS) is a “genetic defect in collagen and connective tissue synthesis and structure” (Schwartz, 2013). EDS affects the skin, joints and blood vessels in most types. In EDS the abnormality of the collagen varies dependent on the type of EDS. Six of the main types of Ehlers-Danlos syndrome include; types I and II EDS which are called the classic type, type III hypermobile EDS, type IV vascular EDS, type VI kyphoscoliosis EDS, type VII A and B arthrochalasia EDS, and type VII C dermatosparaxis EDS (Willacy, 2011).
Type I and II classic EDS are identifiable by the smooth hyperextensible skin, anomalous wound healing, and joint hypermobility (Malfait F, Wenstrup R, De Paepe A, 2007) (see figure 1). Type III hypermobile EDS is the least drastic type of EDS, musculoskeletal complications may occur. The skin is smooth and slightly hyperextensible, bruising is also common. The hypermobile EDS patient suffers from chronic pain associated with dislocation from a slight amount of trauma (Levy, 2004). Type IV vascular EDS is recognizable by the translucent thin skin, easy bruising, facial manifestation (only present for some EDS patients), and finally by the fragility of the arterial, intestinal and (in some cases) the uterine (Pepin and Byers, 1999). Type VI kyphoscoloitic EDS can be identified at birth from severe muscular hypotonia. The skin is hyperextensible, thin scarring, bruising from minimal trauma, and joint laxity (Yeowell and Steinmann, 2000). Type VII A and B arthrochalasia can be identified by joint hypermobility, as well as fragile skin and tissue deformities. The hypermobile joints lead to severe dislocations and paralyzation (Klaassens and Reinstein, 2012). Type VII C dermatosparaxis is identified by joint laxity, sagging skin, umbilical hernia, facies manifestation, and blue sclera (Colige, Sieron, Li and Schwarze, 1999).
Worldwide there is an Ehlers-Danlos syndrome prevalence of approximately 1 in 5,000 people. Type I, II, and III are the most common forms of Ehlers-Danlos syndrome, type III hypermobility EDS prevalence is 1 in 10,000 to 15,000 individuals, whereas type I and II generally have a prevalence of 1 in 20,000 to 40,000 individuals (Ehlers-Danlos Syndrome, 2014). Types IV vascular, VI kyphoscoliosis, VIIA-B arthrochalasia, and VII C dermatosparaxis are all very rare. There have been approximately 30 cases of type VIIA-B EDS, and approximately 60 cases of VI EDS. There have been reports that approximately 12 infants and/or children that have type VII C EDS. Type IV EDS is one of the rarer cases and is found approximately in 1 in 250,000 individuals (Ehlers-Danlos Syndrome, 2014).
Ehlers-Danlos syndrome is an autosomal dominant disorder (Wenstrup, R.J., 2002). Types I, II, IV, and VIIA-B EDS are autosomal dominant, a single copy of the autosomal dominant EDS gene is required to cause the...

Find Another Essay On Analysis and Description of Ehlers danlos Syndrome

Analysis and Description of Hematologic System

1780 words - 7 pages disorders such as Fanconi anemia and Shwachman-Diamond syndrome (Ignatavicius & Workman, 2009). MDS is a lifelong disease, and the main objective of therapy is to reduce the signs and symptoms associated with the condition and improve the quality of life. Common treatment regimens involve the use of blood transfusion, bone marrow transplant, and supportive care using hematopoietic growth factors that promote blood cells synthesis. Other treatment

Analysis and Description of Pancreatic Cancer

2044 words - 8 pages methylated CpG island amplification with representational difference analysis to identify differentially methylated CpG islands in pancreatic cancer (Hong Seung-Mo).” CpG islands are regions in a DNA sequence in which a cysteine nucleotide (C) is right next to a guanine nucleotide (G) with a phosphate in between. “CpG PENK (preproenkephalin) on chromosome arm 8q was one of the genes identified by this method, and more than 90% of pancreatic

Nephrolithiasis Description and Analysis

2123 words - 8 pages treatments was not clearly stated in both studies. Citrus fruit such as lemon, lime and orange juice are alkalinizing agents, in which it helps to boost the level of urinary citrate, and increase urine volume[9]. Thus, those mechanisms are apparently able to prevent RN. Penniston et al. designed a retrospective analysis to highlight the efficacy of Lemon Therapy (LT) in patients with CaOx stone[10]. 100 patients were recruited and placed into 2

Tourette syndrome's Description and Analysis

1250 words - 5 pages causes a person to make repeated, quick movements or sounds that they cannot control. These movements or sounds are called tics, but this symptom is only present in a minority of cases. Tics are the most common symptom of Tourette syndrome. A tic is an involuntary, repetitive movement of muscles usually in the face, neck, shoulders, trunk and hands (Diane, 2011, p.662). Symptoms of Tourette syndrome is often first noticed during childhood, between

Service Description and Situational Analysis

1458 words - 6 pages Service Description and Situational Analysis C&T Learning is a literacy educational program designed to help children who are below their expected reading levels, for example a 5th grader who reads at a 2nd grade level. C&T Learning will provide a comprehensive learning analysis and approach to the ongoing problem continuing facing some children. The program includes, music, physical education, English, reading, writing, and math. C&T

Analysis of the Fragile X Syndrome

1818 words - 7 pages "Fragile X Syndrome (also called FXS) is the most common cause of inherited mental retardation." (2011, University of Michigan Health System). "The gene on the X chromosome that causes FXS is called the Fragile X Mental Retardation 1 (FMR1) gene. The FMR1 gene makes a protein that is needed for normal brain development." (September 1, 2006. Department of Human Health and Services Center of Disease Control and Prevention.) When this protein is

Advertisement critique with description and analysis.

931 words - 4 pages after only one use." Next, across the page about a quarter of an inch is right where the company has placed a description of the product. The description is simple, and straight to the point. Finally, my eyes come to see the picture of the product that this advertisement was trying to sell me. The box appears to glisten, and shine, just like the description says the product does to your teeth, and the colors are bright and reach out and grab your

Description and Analysis of the Different Types of Gangs in the US

1409 words - 6 pages organized crime (Walker, 2013). Fetal Alcohol Syndrome Fetal Alcohol Syndrome definition concludes that FAS is a pattern of birth defects accompanied by the consumption of alcohol during a mother’s pregnancy. Birth defects include low intelligence, mental retardation, hyperactivity, physical abnormalities, and impaired psychological and cognitive development. The babies tend to be born prematurely, with low birth weight, irritability, and

A brief analysis and description of the uniqueness of Malaysian culture

1111 words - 4 pages Ember (2002) defines culture as the customary ways in which a particular population or society thinks or behaves. Culture consists of many aspects including language, religious beliefs, music, food preferences, and gender roles (ibid). Each country has its own unique culture, and an aspect of it which it is well-known for. For example, the British are very polite (Harzing, 2004), Finland is the cleanest country in the world (, 2004

Selection and Description of Organization

929 words - 4 pages 5 SELECTION AND DESCRIPTION OF ORGANIZATIONSelection and Description of OrganizationSherry Liezl CroweMGT413: Managing ChangeInstructor: Dr. JArgosy UniversityRunning head: SELECTION AND DESCRIPTION OF ORGANIZATION 1July 30, 2014Selection and Description of OrganizationGeneral Motors is a public company currently trading as GM in the New York Stock Exchange. The company was founded in Flint, Michigan, on September 16, 1908 and operates as a

Description, Function, Attribution, and Analysis of a Red-figure Type B Kylix

2414 words - 10 pages description has helped map out the objective facts that surround the kylix, data that is integral as one begins to analyze the function, use context, artist, and figural scenes of the antiquity. The kylix Type B is presently defined as a cup with a comparatively wide, shallow body. The word cup, as applied to Greek pottery, denotes any vessel used for drinking. It is relatively small and lightweight, with small handles and an elegant stem

Similar Essays

Analysis And Description Of Dementia

2255 words - 9 pages Dementia is characterized as a condition where the mental processes of cognition and memory start to deteriorate. It is described as a syndrome that hinders the daily lives of those who have it and is characterized by memory and thinking impairment. The most common form of dementia is Alzheimer’s Disease and the second most common is vascular dementia. Dementia is a syndrome occurring usually, but not limited, to people over the age of 40 and

Analysis And Description Of Nephrolithiasis

1472 words - 6 pages understand the underlying condition that may have caused the stone to form. Collecting urine for 24 hours, followed by careful analysis of its chemical makeup, can often determine the reason for stone formation. Signs and Symptoms In many cases, kidney stones do not produce symptoms. However, if a stone becomes stuck in the ureter symptoms can be very severe. Often, symptoms vary depending on the stone's location and its progress. The sizes

Description And Analysis Of Craniosacral Therapy

1143 words - 5 pages Anxiety Stress Depression Irritability Attention Deficit Disorder(ADD) Post-Traumatic stress Dyslexia Learning disabilities Headaches Migraines Shock Ear infections Chronic sinusitis Squints TMJ(jaw) problems Brain and spinal cord dysfuction Chronic fatigue syndrome Young children seem to respond well to craniosacral therapy (Ernst,2001) Practitioners treating patients (The Craniosacral Therapy Association of

Analysis And Description Of Mc Donalds’ Dollar Menu

1853 words - 7 pages The content of this document begin by introducing McDonalds’ and also explains the company’s dollar menu. The document also contains a description of my selected product; ‘the dollar menu’ in terms of the four utilities of customer value, mainly possession, time, place and form. The document also identifies the product’s target market in the US as well as in China, the competition of the product category in both home and foreign markets, it