Conditions Of The Skeletal System

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.

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

Osteogenesis imperfecta is a group of genetic disorders that mainly affect the bones. The term "osteogenesis imperfecta" means imperfect bone formation. People that suffer from this condition have bones that break or fracture easily; also giving it its more well-known name “brittle bone disease”. These bone fractures often occur from mild trauma or even with no apparent cause. There are eight recognized forms of osteogenesis imperfecta, they range from type I to type VIII. The types can be differentiated by their signs and symptoms, although the main characteristic features overlap between each other. Type I is the mildest form while type II is the most severe form of Osteogenesis imperfecta; the other types of this

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,

Osteogenesis Imperfecta (OI) is an inherited disorder characterized by extreme fragility of the bones also known as ‘brittle bone disease’.

Affecting only one in every 2 million people Fibrodysplasia ossificans progressiva (FOP) is one of the rarest genetic disorders of congenital skeleton malformations; identified by congenital malformation of the big toe at birth. Flare-ups occur by soft tissue injury followed by immobility. A mutation in the activin receptor IA/activin-like kinase 2 (ACVR1/ALK2), and bone protein (BMP) type I receptor were reported in all cases of FOP, making this a specific disease causing mutations in the human genome (Kaplan, 28 O). However, there is no current cure for FOP there are new developing treatments. The benefit to studying this rare

Osteogenesis imperfecta (OI) is a disease that causes your bones to break easily, it is also known as brittle bone disease, fragilitas ossium and vrolik disease. OI typically is considered to be a dominantly inherited disorder. Most cases of OI that have been reported have an autosomal dominant pattern. Many people who have this disease have it because they have inherited a mutation from their parent. In some cases, it may have an autosomal recessive pattern. This would be cased due to both parents carrying one copy of the gene. The genes affected are COL1A1, COL1A2, CRTAP, and P3H1.

What is osteogenesis imperfecta (OI)? OI, formally known as Brittle Bone Syndrome, is a genetic bone disorder that affects the body’s ability to make bones strong which causes the bones to fracture easily, often without any apparent cause. OI affects the collagen in your body which not only makes your bones strong, but also helps the rest of your body stay strong as well. There are 8 different types of OI and all of them differ in range of severity. Type 1 OI is the most common and the mildest form of the 8. OI Type 2 is the most severe. OI can even vary greatly between individuals of the same family (“Osteogenesis Imperfecta,”n.d.). Most cases of OI are caused by a dominant genetic defect. This means that only one copy of the mutation is necessary

The term “Osteogenesis Imperfecta” means imperfect bone formation. OI is a genetic bone disorder that results in weak, fragile bones that break easily. OI can also cause muscle weakness, brittle teeth, and hearing loss. There are eight recognizable forms of

FOP, also known as Fibrodysplasia ossificans progressiva, is a rare genetic condition. Approximately, there are about one in every two million births that get this rare disease. Sadly, a little boy named Josh was one in those 2 million births who received this rare disease. People’s lives are affected with this disease because it causes bone to form from soft tissue and usually by the victims 40s; it confines them to immobility before it takes their life. This is evident because of Dr. Snyderman’s facts, the symptoms of FOP, and how it is affecting him with just doing simple things.

What if you couldn’t clap your hands without breaking a bone? Not many people have to worry about this problem, but kids with osteogenesis imperfecta have to worry about it every day. Osteogenesis imperfecta, also known as brittle bone disease is a genetic disorder characterized by bones that break easily, often from little or no apparent cause (Foundation). “Osteogenesis imperfecta is relatively rare. Approximately 20,000 to 50,000 people in the United States have the condition.” (American Academy of Orthopaedic Surgeons).

Fibrodysplasia Ossificans Progressiva, FOP, is a rare and disabling bone disease. It is caused by a genetic mutation of the gene that controls the growth and development of the bones and muscles. The man who discovered this game-changing information is Dr. Kaplan. “The discovery of the mutation immediately suggests an approach to treatment: either to block the renegade proteins or to destroy the message coming from the mutant copy of the gene that creates the renegade proteins, says Kaplan” (Cause of: FOP). Muscle and connective tissues, as well as tendons and ligaments, are gradually ossified, meaning they are replaced by bone. This limits and eventually permanently prohibits movement. FOP usually starts

Osteogenesis Imperfecta, a genetic disorder that is characterized by visible pathologic change’s in tissues that contain Type 1 collagen, this substance plays a major role in the strength and composition of connective tissue throughout the body. The defect is seen on the gene that is responsible for Type 1 collagen production; it may affect either qualitative or quantitative aspects of collagen production and reduction. Previously, the majority of OI cases were considered either autosomal dominant or autosomal recessive, but it is now known that the mutation originate from autosomal dominant. These mutations may either be inherited through genetics or new mutations that occur after conception. If a parent has an inherited mutation there

Paget’s disease, also known as Osteitis Deformans, this is a genetic disease that causes an abnormal processes of breakdown, reabsorption and rebuilding of osteocytes. This abnormal process effects focal bone remodeling and can lead to irregular structure and altered mechanical properties of the bones themselves. The bones become weak and results in pain, arthritis, bone deformities and fractures; however, it is still unclear of what the

While DNA is being repaired there is a mutation that interferes, causing this inconvenience; so