Marfan syndrome

systems that impact the family’s ability to manage disease (Wright & Leahey, 2013). The family structure that will be reviewed revolves around two sisters, J.A. and R.C. R.C. is the individual of focus who is managing the chronic condition, Marfan syndrome. Information regarding R.C., and the family structure and environment was…

This patient has Marfan syndrome. This condition arises from an autosomal dominant mutation in the gene for the fibrillin-1 protein. Patients with Marfan syndrome are generally of tall stature with long limbs. Their joints are hypermobile, which can be assessed by asking patients to extend their elbows and observing hyperextension. Hypermobility…

began in March 2010, even though no physician has imposed or placed her off from work. She feels that primary barrier preventing her from returning to work is her overall condition of having been diagnosed with AVM Type A Aortic Dissection in Marfan Syndrome. She seems her overall medical condition cognitively has affected her short-term memory where she is unable to focus and remember dates and times.…

Ehlers- Danlos Syndrome (EDS) is a rare connective tissue disorder. There are six different types of EDS, all with varying degrees of signs and symptoms. The key signs that patients with EDS display are overly hypermobile joints, skin elasticity, and abnormal vasculature, which is seen in some types of the condition. The life of a patient with EDS can be very frustrating because many doctors and physical therapists do not have a good knowledge base to help treat and control the condition. Pain…

mother's blood. Williams Syndrome Williams syndrome is a rare disorder that can lead to problems with development. It is passed down in the offsprings of families. One of the 25 missing genes is the one that produces elastin, a protein that allows blood vessels and other tissues in the body to stretch. It is likely that missing a copy of this gene results in the narrowing of blood vessels, stretchy skin, and flexible joints seen in this condition. Symptoms of Williams syndrome are:…

Mohammad Ekrama Biology 22 Professor Clark 1october 2016 Christianson Syndrome Abstract: Christianson Syndrome is a super rare disease, it is a recessive X-linked disorder ,that usually affects the human body, specifically the nervous system. There are a lot of symptoms for this disorder like ataxia, seizures, epilepsy, severe mental retardation and microcephaly. Mutations on the SLC9A6 gene cause Christianson Syndrome, this gene is located on the X chromosome. This disorder is usually…

neurodevelopment disorders, and what psychiatric disorders and down syndrome does in adolescents and young adults. This paper will only contain abstracts of my own doings for each journal I have obtained for this study. I will not be going into depth with every single disorder that is within a neurodevelopment disorder such as Mendelsohn’s Syndrome or…

Angelman syndrome is a rare genetic disorder that affects around 1 in around 12,000-20,000 live births and affects both males and females equally. Angelman syndrome is very often misdiagnosed as autism or cerebral palsy. Angelman syndrome is not an inherited disease, and is instead caused by a change in the E3 ubiquitin protein ligase gene (UBE3A) on the maternal chromosome 15. This change prevents the chromosome from functioning properly. It occurs as a random event during the formation of eggs…

Overview: What is Williams Syndrome? Definition: Williams Syndrome is a genetic disorder, resulting from the deletion of 26 or more genes one chromosome number 7 (Mervis et al., 2000). That seemingly small loss can affect numerous parts of a person’s physical and mental health, as well as social behavior and sensory perception (Genetics Home Reference, 2014). Diagnosis: Williams Syndrome is a genetic condition that a child is born with and it can impact a child’s prenatal development as well…

In 1965 Harry Angelman reported clinical findings in three children with similar, unusual, attributes. These children had what was known as “happy puppet” syndrome, but was later changed to Angelman syndrome, due to its pejorative name. Angelman syndrome is a neurodevelopmental disorder distinguished by: severe learning difficulties, ataxia, jerky movements, epilepsy, speech impairments, hypopigmentation in the hair and the skin with blue eyes, subtle dysmorphic facial features, and happy and…