EHLERS DANLOS SYNDROME WHAT IS THE EHLERS DANLOS SYNDROME? • EDS is a group of rare inherited disorders • The disorder weakens connective tissues • Connective tissues support joints‚ blood vessels‚ skin and other organs • There are 6 major types of EDS • Different types are classified according to appearance of signs and symptoms. – Hypermobility – Classical – Vascular – Kyphoscoliosis – Arthrochalasis – Dermatosparaxis WHAT ARE THE SPECIFIC SYMPTOMS? • Overly flexible joints • Hypermobility
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Down syndrome (Trisomy 21) Down syndrome is a genetic disorder that occurs when an individual has an extra chromosome 21 in them. Down syndrome can also be referred to as ‘Trisomy 21’. An English physician named John Landon Down first discovered Down syndrome back in 1862. This genetic disorder has been around since the 16th century and possibly even longer. The treatments for Down syndrome are not distinct as it depends on how severe the Down syndrome is. Down syndrome or Trisomy 21 was
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Abstract Down syndrome‚ also known as trisomy 21‚ is the most common chromosome abnormality in humans and it occurs in all races. Approximately 1 of every 691 babies born in the United States each year is born with this genetic condition. Because people with Down syndrome have extra copies of genes on chromosome 21‚ the course of normal development is disrupted and this leads to the distinctive physical characteristics and other health issues that are associated with this syndrome. With appropriate
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Chromosomal Disorders 1. Name the condition. Edwards Syndrome (or Trisomy 18) 2. Outline the chromosomal abnormality. Trisomy 18‚ or Edwards syndrome‚ occurs when a person has a third copy of material from chromosome 18 instead of the usual two copies. 3. What chromosomes are involved? Chromosome 18 is the only chromosome involved with this disorder. 4. What does it affect? The majority of children born with Edward ’s syndrome appear both fragile and weak; many are underweight. Their
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Jacob Santel Mrs. Potter Reading Down Syndrome(Need different title) This is one of the most interesting genetic diseases in the world‚ and yet there is no cure for it. This disease can affect people drastically‚ or sometimes very little at all. Although there is no way to treat it‚ it can be helped‚ and there are many programs to help. This complex genetic disease is called down syndrome. Down Syndrome has many effects. People with down syndrome usually “look alike.” They usually have a
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Marfan Syndrome By Jordan Martinez This disease is interesting to me because I have a friend diagnosed with this disease. If you take a quick glance at him you could tell that he has unusual body features. These are conditions to being diagnosed with Marfan syndrome. The conditions and features applied with Marfan syndrome. They are tall‚ skinny they have long toes and fingers they have a dent on their chest. Marfan syndrome is a connective tissue disorder that is defective
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Rett Syndrome: Important to Diagnose Imagine this‚ you are enjoying the Christmas holiday at your grandparents with your aunts‚ uncles‚ and cousins. You think nothing of it because it is a completely normal thing to do. This is the first year all of my cousins were together in about three years. I introduced my boyfriend‚ Devin‚ to my other cousins he hadn’t met yet. As we were talking‚ I grabbed a plate of snacks when my five year old cousin walks up to me. She did not say anything just stared
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Horner’s Syndrome Anatomy and physiology Horner’s syndrome is a rare condition that targets the nerves in one’s eyes and face. Horner’s syndrome is caused by any type of interruption in a pack of nerves that begin in a part of one’s brain that is called the hypothalamus and it travels to one’s face to their eyes. Horner’s syndrome’s symptoms include‚ drooping eyelips‚ and small constricted pupil. In an eye examine one’s eye may have changed in the way one’s pupil opens and closes or
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Rett’s Syndrome What is Rett syndrome? Rett’s syndrome is a neurodevelopmenal disorder that for the most part only affects women. Infants with Rett syndrome seem to grow and develop normally at first‚ but then stop developing and even lose skills and abilities. Rett’s Syndrome can be summed up by normal early growth and development followed by a slowing of development‚ loss of purposeful use of the hands‚ distinctive hand movements‚ slowed brain and head growth‚ problems with walking‚ seizures
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Marfan syndrome or not‚ which was eventually resolved when Lincoln actually inherited a disease called Multiple Endocrine Neoplasia Type 2B. Contributing to the dispute of Marfan syndrome in Abraham Lincoln‚ in 1964 a physician published his findings and observations in the Journal of the American Medical Association which diagnosed Abraham Lincoln that he had Marfan syndrome (Kugler). However‚ his conclusions were eventually proven wrong. But despite the false accusations‚ Marfan syndrome does exist
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