Syndromes

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

Prader-Willi syndrome is a genetic disorder caused by the deletion of part of chromosome 15. This genetic abnormality affects the hypothalamus which influences growth hormones, sex, thirst, and hunger and is contributed to developmental delay. Children with Prader-Willi syndrome will develop hyperphagia. Hyperphagia is a serious eating disorder, and is characterized by extreme overeating to the point where it becomes life-threatening. Hyperphagia is hard to treat and is the main trait of Prader-Willi

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 & 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

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

Cornelia de Lange Syndrome typically presents with a constellation of distinctive features affecting several different parts of the body. There is a wide degree of variation between individuals with the disorder in the presentation and severity of symptoms; however, the features described below represent a typical presentation. Slow growth during both fetal and post-natal development is a characteristic feature of the disorder. Approximately 90% or more of patients display delayed skeletal maturation

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

Genetic Disorder that Gives the Cry of a Cat The genetic disorder named “cri du chat” is a partial depletion of chromosome 5p. Also known as “ Lejeune's syndrome” as first described by Jerome Lejeune in 1969. The name “cri du chat” is a French term, which means cat-cry or call of the cat, because of how affected children have a kitten like cry. It affects about 1 in 50 000 children born, predominantly inherited by females by a 4/3 ratio. Although this particular symptom has been named after, the

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

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