Syndromes

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  • Angelman Syndrome : The Happy Puppet Syndrome

    1084 Words  | 5 Pages

    According to the US National Library of Medicine (2017), Angelman Syndrome, also known as Happy Puppet Syndrome is a “complex genetic disorder that primarily affects the nervous system.” Angelman Syndrome occurs when there is a change to the E3 Ubiquitin Protein Ligase Gene (UBE3A) located on chromosome 15. Angelman Syndrome was first discovered by Harry Angelman, a Physician in 1965, when he witnessed three young children who represented similar symptoms. They all had bright, happy personalities

  • Angelman Syndrome

    1248 Words  | 5 Pages

    There are many diseases and syndromes that occur in the developmental stage of human development. One of the many syndromes is Angelman syndrome. When this syndrome was first discovered by Harry Angelman, it was known as “happy puppet syndrome”. This syndrome is not typically diagnosed at birth, but can also be diagnosed from the ages of one to six. This syndrome is a neuro-genetic disorder that occurs in one in 15,000 people. Because of its rareness, this syndrome is often misdiagnosed as autism

  • Angelman Syndrome and Prader-Willi Syndrome Essay

    1517 Words  | 7 Pages

    Angelman Syndrome & Prader-Willi Syndrome Introduction Prader-Willi and Angelman Syndrome are two genetic disorders with vastly differing phenotypes linked by missing genetic imprints on the 15th chromosome’s q arm between regions 11 and 13 . While both orders result in mental deficits, their symptoms are otherwise segregated from the other in their entirety. The differences in the disorders are the result of differing DNA methylation patterns present in maternally and paternally inherited DNA

  • Stockholm Syndrome Or Norrmalmstorg Syndrome

    764 Words  | 4 Pages

    first sight, childhood memories, recent times or kidnapping-wait what? As ridiculous as it sounds, falling in love for your captor or abuser has been an actual phenomenon that unfortunately exists in our world; Often called Stockholm Syndrome, Or Norrmalmstorg Syndrome , it is a psychological condition that makes the captive believe in an alliance with their captor. On August 23, 1973 in Stockholm, Sweden 4 bank workers were taken in hostage by Jan-Erik Olsson for a 6 day stand-off with the police

  • Prader Willi Syndrome Essay

    1619 Words  | 7 Pages

    Brownsville, she was sent to Driscoll Hospital in Corpus Christie within a couple of weeks. While being in the care at the hospital, medical doctors diagnosed Janelle with Prader-Willi Syndrome. As you can imagine, so many questions and thoughts went through her parent’s minds. To start, what is Prader-Willi Syndrome (PWS)? According to Genetic Home Reference, PWS is a complex genetic condition that affects many parts of the body, such as muscle tone, insatiable appetite, intellectual impairment, and

  • Reflection On Velocardiofacial Syndrome

    862 Words  | 4 Pages

    Tierani Richardson Reflection 15 Content: Our group was assigned velocardiofacial syndrome (VCFS). I was excited to receive a syndrome to which I had not been exposed. I was assigned etiology, history, and incidence/prevalence. I learned that VCFS originates from the Latin words “velum” which means “palate,” “cardia” which means “heart,” and “facies” which means having to do with the face. It is the most common syndrome associated with cleft palate! Additionally, VCFS is an autosomal dominant condition

  • Down Syndrome

    3938 Words  | 16 Pages

    Having a Down syndrome is such a difficult situation for an individual to have. They have slow physical and mental capabilities that lead them to discrimination. Physical features of having a Down syndrome. Including flattening of the head; slanting of the eyelids; a gap between the first and the second toes; a depressed nasal bridge; relatively small ears, mouth, hands and feet; short stature; decreased muscle tone and loose ligaments among others. Not every child with Down syndrome has all of these

  • Marfan Syndrome

    1003 Words  | 5 Pages

    Marfan Syndrome Have you ever wondered about the diseases that you can get from your parents? One of these major diseases that can change someone’s life is called the Marfan Syndrome. Marfan Syndrome is a disorder of connective tissue that is inherited from the parents. The bones and circulatory system are usually the parts of the body that are longer and the ones that are changed because of the disease. There are many things that can cause a disease. Marfan syndrome is caused by a mutation

  • Turner Syndrome

    915 Words  | 4 Pages

    Turner Syndrome (TS) also known as monosomy X. Turner Syndrome is caused by the complete or partial loss of one of the X chromosomes resulting in 45X chromosomes. This disease affects only girls and women. It is one of the most common chromosomal disorder and likely the most common genetic disorder of females (National Organization for Rare Disorders 2012). Individuals are usually diagnosed before birth, shortly after birth or during early childhood. It is important to diagnosis Turner Syndrome as early

  • Tourette Syndrome

    422 Words  | 2 Pages

    Physical: Tourette syndrome is a neurological disorder that is characterized by involuntary movements referred to as a tic. The tics can range from being relatively simple to complex. - Simple: sudden repetitive movements that only involve a small number of muscle groups. Involves eye blinking, other eye movements, shoulder tension, facial rigidity, and head and shoulder twitching. -Complex: Very distinct characteristics. These complex tics involve several muscle groups. Combined facial rigidity

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