Fibrodysplasia Ossificans Progressiva Research Paper

Achondroplasia is when cartilage during development is not developed into bone, which results in dwarfism. This condition also characterized by short limbs is initiated by a gain of function mutation in the FGFR3 gene. This mutation is a point mutation. When this mutation occurs, the receptor of the FGF does not need the FGF signal to be activated. This causes the chondrocytes to stop dividing and start differentiating into cartilage prematurely and the bones fail to grow to their proper length, thus resulting in the short limbs that result from this mutation. (textbook) The FGFR3 gene encodes for the Fibroblast growth factor receptor 3 protein. Textbook

Osteoporosis is a bone disease that occurs when the body loses too much bone, makes too little bone, or both. As a result, bones become weak and may break from a fall or, in serious cases, from sneezing or minor bumps (nof.org). This skeletal disease is characterized by the increase in the fragility of bones as a result of reduced bone mass density and the deformation of the structure of bone tissue (Angin,Erden,Can, 849). Many patients with osteoporosis are instructed by their doctor to exercise; as this will improve their rehabilitation of this disease and lessen the pain associated with it.

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.

Gorham’s disease is an extremely rare musculoskeletal disease of unknown origin that is characterized by the uncontrolled production of distended, thin-walled vascular or lymphatic channels within bone, which leads to resorption and replacement of bone with angiomas and/or fibrosis and the destruction of bone (Lymphangiomatosis and Gorham’s Disease Alliance [LGD Alliance] 2016). This disease usually occurs in children or younger adults that are forty years or younger. Diagnosis and treatment is usually delayed due to the rarity of this disease and due to the fact that many physicians do not have the chance to learn about this disease (Patel, 2005). Because of the loss of the affected bone, the condition is also called disappearing bone disease, vanishing bone disease, and massive osteolysis. Osteolysis means the breaking down of bone. The word is broken up into bone (osteo) and breaking down or destruction (lysis) (LGD Alliance 2016). Fewer than 200 accounts of Gorham’s Disease are reported in the medical literature (National Organization of Rare Disease [NORD] 2008). The condition got its name when Gorham and his colleagues discovered two patients with massive osteolysis in 1954. In 1955, Gorham and Stout discovered further information on these cases and named the disease Gorham’s disease, sometimes called Gorham-Stout disease (Patel, 2005).

Osteopetrosis is a rare, genetic disease that causes extremely dense and brittle bones. This is because individuals affected with osteopetrosis do not have normal osteoclasts, which bones need to work correctly. Healthy bones require properly functioning osteoblasts and osteoclasts. Osteoblasts are responsible for making new bones and osteoclasts are bone cells that are responsible for bone resorption, which is the breaking down of bones and providing space for new bone marrow to grow. An individual with osteopetrosis has osteoclasts that do not function properly, therefore their bones are not healthy (Stocks, Wang, Thompson, Stocks, & Horwitz, 1998).

The FBN1 gene is responsible for providing instructions for the production of fibrillin-1, which is a protein that is secreted into the matrix of connective tissue (“FBN1,” 2015). Therefore, a mutation in this gene can cause the excessive production of fibrillin-1, and when fibrillin-1 binds to other proteins they form threads called microfibrils. Microfibrils contain a growth factor called transforming growth factor beta or TGF-β (“FBN1,” 2015), so when there is an increase of TGF-β, problems with the connective tissue throughout the body can occur (“What is Marfan Syndrome? | The Marfan Foundation,” n.d.), more of these problems will be elaborated upon further in the report. The genetic mutation in the FBN1 gene is usually hereditary, but it is possible for one to be the first in their family to have this genetic mutation. If one has this mutation

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

Fibrodysplasia ossificans progressiva also known as FOP is a one of the rarest, most disabling genetic bone conditions known to medicine. FOP causes muscles, tendons, ligaments, and other connective tissues to turn in to bone. Movement becomes limited in the affected areas of the body. People with FOP typically have malformed toes at birth, meaning the big toe is typically shorter than normal and abnormally turned outward in a position called a valgus deviation. Symptoms of FOP start to show up in early childhood. Most people with FOP develop painful tumor-like swellings also known as fibrous nodules. The fibrous nodules are visible on the neck, shoulders, and back.

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

Fibrodysplasia ossificans progressiva is a rare and incapacitating condition of skeletal malformations and progressive heterotopic ossification. It was originally called myositis ossificans progressive (MOP) and was discovered by a French physician, Guy Patin, who came across a patient who had FOP. He described the patient to have “swellings” in his back (History of FOP, 2009). They changed it from MOP to FOP because other fibrous tissues in addition to muscle are replaced by bone. FOP causes excessive bone growth and begins in the early stages of life.

Fibrodysplasia ossificans progressiva (FOP) is a disorder in which muscle tissue and connective tissue such as tendons and ligaments are gradually replaced by bone, forming bone outside the skeleton (extra-skeletal or heterotopic bone) that constrains movement. It usually becomes evident during early childhood, always starting with the neck and shoulders and proceeding down the body into the limbs.

There are numerous factors that contribute to the development of this horrible disease, but the most important factor is vitamin D deficiency. When the minerals in osteoid crystallize, they require adequate concentration of calcium and phosphate. When the concentration is not at the correct level, ossification does not proceed normally (Huether & McCance, 2008). Vitamin D regulates the absorption of calcium from the intestine. When there is a lack of vitamin D, the concentration of calcium begins to fall (Huether & McCance, 2008). The body begins to regulate this calcium drop by increases the amount of PTH synthesis and secretion (Huether & McCance, 2008). An increase of PTH causes a clearance of phosphate and without the correct levels of phosphate mineralization of the bones cannot proceed in the correct manor (Huether & McCance, 2008). The abnormality of bone growth can occur in spongy and compact bone (Mayo

The major defect in Osteomalacia is a deficiency of activated vitamin D , which promotes calcium absorption from the gastrointestinal tract and facilitates mineralization of bone.

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