Stickler Syndrome

Depression is a clinical condition associated with the normal emotions of bereavement and sadness. However, this condition does not pass on when the external causes of these emotions dissolve and is usually inconsistent to their cause. In essence, the classic severe conditions of depression have not been attributed to external precipitating cause. One of the most common conditions of depression is Major Depressive Disorder (MDD), which is a psychiatric condition that impairs moods, behavioral patterns, and thoughts for a protracted duration. This psychiatric illness tends to impair the patient’s social functioning and quality of life due to its impacts on cognitive functioning. Some of the most common symptoms of the condition include difficulty in concentration, weight change, minimal interest in pleasure, high rate of suicide, and physical impairment. The severity of this disease was evident in the year 2000 when the World Health Organization ranked it as the fourth cause of disability and premature death across the globe.

Genetics determine the traits an individual will inherit from their parents. In society today, the role of genetics is crucial; they decide ones physical appearance as well as their personality. However, if there is a mutation located in one of the genes that a child receives it is very likely a deformity will be present. A rare yet fatal defect from a gene mutation such as this is Progeria. This disorder is an unfortunate one that may occur in two forms, either Hutchison-Gilford Progeria or Werner syndrome. Not only do they affect the bone structure and appearance of the child, but they substantially shorten their life spans.

Treacher Collins disease is a rare, congenital, craniofacial condition affecting bones, jaws, skin, and muscles of the face. This disorder is caused by a mutation in the gene on chromosome 5. This chromosome affects facial development. This mutation can appear new or be passed on. A person with Treacher Collins has a 50/50 chance of passing it on to their offspring. This disorder comes along with many symptoms such as small or missing ears, no ear canals, missing brow and cheek bones, speech and swallowing problems, coloboma of the eyelids, wide mouth which gives limited mouth opening, dry eye syndrome (causes infections) and downward sloping eyes. Persons with this disease can be born blind, deaf, suffer from depression and/or are unable to

This syndrome is from a mutation of a gene on chromosome 15 and this causes problems in the production of fibrillin-1 which is a protein that is an important part of connective tissue. The name for the gene is FBN1. Basically, it is the “glue” that helps to support the tissues in the human body. A child born to a parent with this syndrome has a 50% of having it. However, in the remaining 25%, neither parent has the disease which gives them a 1 in 10,000 chance of having a child with this disorder. When a child of two unaffected parents is born with it then the genetic mutation occurs in either the egg or sperm cell at the time of conception.

The Parry Romberg syndrome is unusual disorder that slowly deteriorates the skin and soften facial tissues around the frontal face; however, this usually occurs on the left side. Doctors are uncertain if it’s an autoimmune mechanism that initiates this unique disease. The Parry Romberg syndrome may be a variation of a skin disease called morphoea. The beginning stages of this facial deterioration usually encompass the tissues above the upper jaw or between the nose area and progresses to the direction of the mouth, areas around the eye, the brow, the ear, and the neck. The deterioration may also affect the tongue, the soft and fleshy part of the roof of the mouth, and the gums. Parry Romberg syndrome is associated with neurological anomalies

Major Depressive Disorder has claimed the lives of up to 15% of those suffering from the disorder through suicide (Belmaker & Agam, 2008). Different people are effected by depression in different ways. Some individuals, like Raquel, suffer from loss of interest, feelings of worthlessness, along with thoughts of suicide (Fave & Kendler, 2000). Others go on with their daily routine with a smile on their face, while hiding their emotions. Although most individuals will experience depressed mood or general loss of interest in activities they once enjoyed (Spaner, Bland, & Newman, 2007).

Miller-Dieker lissencephaly syndrome (MDS). MDS features include classic lissencephaly (incomplete or absent gyration of the cerebrum), craniofacial dysmorphims, mental retardation and intractable epilepsy. MDS is a life-shortening disease, with death most often occurring during early childhood (Dobyns, W.B., Curry, C.J.R., Hoyme, H.E., Turlington, L., and Ledbetter, D.H. Clinical and molecular diagnosis of Miller-Dieker syndrome. Am. J. Hum. Genet 1991. 48, 584–594; Nagamani, S.C., Zhang, F., Shchelochkov, O.A., Bi, W., Ou, Z., Scaglia, F., Probst, F.J., Shinawi, M., Eng, C., Hunter, J.V., et al. Microdeletions including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment.

“This process generally becomes noticeable in early childhood, starting with the neck and shoulders and proceeding down the body and into the limbs.” (Genetic Home Reference, 1). One indicator of the presence of the disease is the malformation of a newborn’s hallux, the hallux of a newborn will have an abnormal angulation facing the median of its foot. “Other skeletal malformations of the cervical spine and ribs and the abnormal development of bone at multiple soft tissue sites may lead episodically to stiffness in affected areas, limited movement, and eventual ankylosis of affected joints (neck, shoulders, elbows, hips knees, wrists, ankles, jaw, often in that order).” (NORD,1). FOP is a very rare genetic disorder, “It was first identified in the 17th century. Of an estimated 3000 affected individuals worldwide, there are approximately 800 known patients. This disorder affects both genders and all ethnicities.” (NORD,1). Since the disease is a genetic one, it is not spread through a contagious pathway. It results from an autosomal dominant pattern. Mutations in the ACVR1 gene cause fibrodysplasia Ossificans Progressiva. The ACVR1 gene provides instructions for producing a member of a protein family called bone morphogenetic protein (BMP) type I receptors.” (Genetic Home Reference, 1). Experts, who have done extensive research believe that the

Clinical depression is an illness that significantly affects the way someone feels; causing a persistent pessimistic mood. There are two main types of depression; post trauma and clinical deposition. This medical condition is often accompanied by a range of other physical and psychological symptoms that can interfere with a person’s everyday life; affecting 6% of Australian adults every year. Symptoms for depression include sleeping pattern disturbances, loss of motivation and interest, feeling worthless or guilty, anxiety and impaired concentration. There are a few ways that this depressive illness can be caused: reaction to a distressing situation like loss or stress; part of an illness such

Previous research by Kaplan in the Skeleton in the closest devoted an article on Harry Eastlack living with the disease. Harry Eastlack is the perfect example of unnecessary biopsies and surgical procedures that greatly exacerbated his condition. During Harry’s lifetime, he experienced eleven operations because doctors failed to focus on the connections between the heterotopic ossification and the malformation of the toes (Kaplan, 2013). He was born with malformed toes, yet it wasn’t until his leg was struck by a car at the age of five that caused the progression of the disease. After the car accident, the flare-ups began and formed heterotopic bone in his lower limb. As the disease advanced Harry was unable to function with normal daily activities and was moved to a nursing home. Figure 4 illustrates the progression of Harry Eastlack fibrodysplasia ossificans progressiva throughout his life. Prior to his death he made a noble decision to bequeath his body and medical records to The Mutter Museum of The College of Physicians in Philadelphia for future generations to learn and study his disease (Kaplan 2013). Till this day, scientific researchers refer to his medical records as a guide to the disease. Although, Harry was never diagnosed with fibrodysplasia ossificans progressiva during his life, his contribution has made a significate impact with the members of the fibrodysplasia ossificans progressiva

Many of them have a genetic aspect, so when my sisters and I had children we had to visit a genetic specialist. Klippel-Feil Syndrome is a rare disorder, first reported in 1912 by Maurice Klippel and Andre Feil (The Facts, n.d.). It primarily presents as fusion between at least two bones of the cervical spine, the part of the spine in the neck. Symptoms are typically a shortened neck, limited mobility of the head and neck, and lower hairline on the posterior side. However, there are different classes of the disorder and not all of these are present in each class.

Have a tendency for dislocation of joints especially the hip, knee, shoulder, elbow and clavicle.

A. Dominant pathogenic mutations display their traits despite another copy remains present. The lethal form of keratitis-ichthyosis-deafness (KID) syndrome is caused by the reversion of the GJB2 nonsense mutation p.Tyr136X that would otherwise have confined the effect of another dominant lethal mutation, p.Gly45Glu, in the same allele

5. What is the prevalence and prognosis of this condition? Is it an inheritable (genetic) condition/disease? (1 point)

Physical wellbeing is a high priority in recent health and social care provision. The significance of endorsing health and wellbeing is due to the dramatically rising trend of morbidity and mortality from health problem, illness and chronic disease. According to the World Health Organisation (WHO) “health is a state of complete physical, mental, and social wellbeing and not merely the absence of disease and infirmity.” (WHO, 1948). This explains that, health programs should not alone diagnose and treat pathological illness, but should enforce and promote maximum wellbeing of individuals such as using the biopsychosocial perspective on health and illness. In this essay, I will introduce a few examples in the field of psychological factors. However, since there are numerous of psychological factors that influences health, I will be focusing in on pain and addiction by showing how these factors determines biological, social and cognitive aspect of an individual physical health.