Proteus syndrome

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

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

Sturge-Weber Syndrome Kris Avila 08/30/2015 NURSPT 030L Mrs. B Abstract According to the Sturge-Weber Foundations, Sturge-Weber Syndrome can be diagnosed once the baby is born. With the most obvious characteristics, the baby will have a dark purple birthmark that covers close to half of his/her face. Another symptom from Sturge-Weber Syndrome is that it can cause neurological deformity. Both of these symptoms are caused by the abnormal blood vessels near the eye and on the surface

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

Before I gave the Goldman Fristoe to Lauren, my client, I asked why she they wanted to bring her in to the Butler University Clinic. The parents said that her preschool teacher had a hard time understanding her in class and suggested to take her to a speech pathologist. Lauren spoken language is English and there were no prior medical issues. Therefore, I decided to give Lauren the Goldman Fristoe to see what phonemes she struggled with. Since Lauren is 4 years, 10 months and 17 days old, I gave

presented over Williams Syndrome. Williams Syndrome is a genetic condition that is caused by a deletion of 26-28 genes on chromosome seven. The more genes deleted, the more severe the characteristics will be. The deletion is also present from conception due to an abnormality of the egg or sperm cell. The syndrome is named after John C. Williams. However, Alois Beuren is also credited for research on Williams, which is why it used to be referred to as Williams-Beuren Syndrome. Williams occurs in less

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

There are many different types of syndromes and disease in the world today. Steven Johnson is one of them. This Syndrome is a very rare disorder in the world today. Many persons do not have a clue in which what this serious is or/and why it occurs. The Steven Johnson syndrome is a disorder of someone’s skin or mucous infection. This occurs when the persons take medication(s) that they are possibly is allergic to. It’s really not the medication but it’s like the medication is fighting off some good

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

but also the difficulties he has had to over-come and the courage he needed to get through them. This story gives a glimpse into the life of an Aspergergian- as he likes to call himself. Aspergers syndrome is a form of autism that affects the ability to effectively socialize and communicate. This syndrome generated a vast majority of complications all throughout his life. During his childhood, John is a social outcast. He does not know how to befriend people, and he is very blunt and rude to his peers