A Brief Note On The, Autosomal Recessive Craniotubular Craniotubular Hyperostosis

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

Osteogenesis Imperfecta is a rare genetic disorder caused by a gene mutation in which bones break easily, often with no particular cause. OI can cause extreme pain and discomfort. There are several types of this disorder ranging in severity. The population affected by this disease ranges by type from one in every sixty thousand to one in every thirty-thousand.

It is the most common bone disease and more common in women and in the elderly

Osteogenesis Imperfecta, also known as Brittle Bone Disease, is a disease that effects bones and joints. Osteogenesis Imperfecta is a disease that effects child, and most often children are born with this disease. In some cases the disease may take a couple years to show symptoms, but more often than not the disease is recognized when the child is born. “Osteogenesis Imperfecta is caused by a defect in the gene which produces collagen 1, an important building block of bone” (Osteogenesis). The bones are very fragile, and often times break when touched or moved. The severity of the disease depends on which portion of the gene is affected. If a child is lucky, the disease may only affect a small portion of the gene, which would make the

What parts of the body does it affect? How common is it? Are there multiple forms/causes for developing the condition? How long can an individual survive?

     Recent studies show that this syndrome may be associated with changing craniofacial and skeletal muscle metabolism, such as blood flow, which causes the chronic fatigue and severe weakness. Another hypothesis is that an infectious trauma to the body, such as a virus, triggers the illness. However, with this syndrome being new, no specific virus has been identified. There is though a plot study that shows that there is possible inherited tendency toward the disease. This disease/syndrome has increased

This patient is most likely presented with osteogenesis imperfecta. This disease is characterized by a group of genetic disorders that mainly affect the bones, in which the patients have their bones break easily resulting either from mild trauma or no apparent cause. Multiple fractures are commonly seen, and in severe cases, can occur even before birth. In milder cases only a few fractures may be seen. There are several types of OI, at least eight recognized forms of osteogenesis imperfecta, from type I through type VIII. They can be distinguished by their signs and symptoms, although their characteristic features may overlap (Greeley, et al., 2013). This patient apparently has the severe forms of osteogenesis imperfecta, including type I, which are characterized by bone fractures during childhood that often result frequent bone fractures from little or minor trauma. This child presented with a blue or grey tint to the part of the eye that is usually white,

Osgood-Schlatter, or osteochondrosis, is a disease that occurs on the upper part of the shinbone, just below the knee. There is a painful bump called the anterior tibial tubercle that swells in this area. Fortunately, this disease does not endanger one’s life. Osgood-Schlatter affects adolescents whose legs are still in the process of growing during puberty.

The symptons include facial disformities including downward slanting eyes, smaller lower jaw (also referred to as micrognathia),underdevloped zygoma, drooping

have been trying to find the exact cause of this disease and how it can be treated so

Ostium secundum defects which represent 80% of all ASDs and are located in the region of the fossa ovalis

Septo-optic dysplasia (SOD) is a rare disorder that is a result of the optic nerve not developing all the way. The optic nerve is the main nerve that carries impulses from the eye to the brain to allow vision. SOD is also known as de Morsier syndrome. People are born with this disorder (it is a congenital disorder). People with SOD often lack an important part of the brain (the septum pellucidum) and often have problems with the pituitary gland, a gland that controls hormone levels. Intellectual ability can vary from normal intelligence to severe mental retardation. There may be episodes of uncontrollable shaking (seizure). In a few cases, yellow skin coloring (jaundice) may be present at birth. Some children with SOD

Rickets is a skeletal disorder, usually in children, that causes bones to become softer and weaker due to prolonged Vitamin D deficiency. Not having enough Vitamin D in your diet makes it problematic to get enough calcium and phosphorus levels causing rickets. By increasing the levels of Vitamin D in the human body, the rickets will generally correct itself. However, if this disease is diagnosed from genetics, you will probably have to seek other treatments as well. Some malformations in rickets can require corrective surgery.

Osgood-Schlatter also known as osteochondrosis is classified as a disease that arises in the knee in which the tibial tubercle of apophysis experiences a detachment from the proximal end of the tibia causing inflammation. Hence, Osgood-Schlatter is basically a disease which causes pain to a hackneyed tibial tuberosity. This disease may be originated from a trauma or an excessive traction of the soft apophysis of the tibial tuberosity by the patellar tendon. This lesion often occurs among adolescents as they reach puberty as it is a physical development period in which it typically occurs in females between the age of ten to twelve and boys between the age of thirteen to fifteen. Moreover, it may also occur

Based on the observation of three distinct periods of climax, scoliosis has been sub-divided into three groups; infantile, before the age of 3; juvenile, age 5 to 8; and adolescent, age 10 until the end of