Achondroplasia Research Paper

An imbalance in the regulation of bone remodeling's two contrasting events, bone resorption and bone formation, results in many of the metabolic bone diseases, such as OSTEOPOROSIS.

Achondroplasia is a genetic disorder in which there is a growth hormone deficiency, or there is a genetic mutation in either the father’s sperm or mother’s egg. (mayo clinic, March 20,2014.) Achondroplasia was the first discovered in ancient Egyptian records. People with achondroplasia were considered people with supernatural powers. Many people call dwarfs midgets but to them, it is very disrespectful because midget literally means little person. Some acceptable names that you can use that will not offend them would be little people, LP, person with short stature, or dwarf. Even though dwarfs feel as if they do not have disabilities, the Americans with Disabilities Act (ADA) will protect the rights of dwarfs. (who discovered it? March

Achondroplasia (ACH) is the most common form of short-limb dwarfism occuring in 1 in 15,000 to 28,000 births and appears to be slightly more prevalent in females, but indiscriminent toward race (1-3). Evidence has been found in Egypt for cases of ACH dating back as far as 4500 B.C. (4). In simplest terms, ACH is a disease where the dwarfing of bones formed in the cartilage occurs (5). There are many features that accompany this disease including rhizomelic (proximal) shortening of the extremities, megalencephaly (enlarged brain), short stature, trident hand, and frontal bossing (prominent forehead) (1, 3, 4, 6-8). Expression of this gene at high levels is primarily found in cells of the nervous system and the cartilage rudiments and

Here are some interesting facts on Achondroplasia. Achondroplasia is a small limbed dwarfism. A disorder of bone growth which stops the changing of cartilage to bone. Here are some major causes of mutations in the FGFR3 gene. The symptoms of Achondroplasia are health problems such as breathing stops or slows sown at small amounts of time, obesity, ear infections, in childhood individuals get a permanent sway of lower back, and pain and weakness in legs. Those are some interesting facts on Achondroplasia.

Researchers believe the mutation of this gene causes too much bone to grow instead of muscle.

There are treatments that can help sustain quality of life for individuals with FOP. For example, steroids, such as glucocorticoids, can be used to help with relieving some mobility restrictions related to the overabundance of bone on muscles (10). More specifically, these help minimize the flare-up effects on heterotopic osteogenesis. Other possible treatments may involve the creation of inhibitors to block BMP pathway activity and signal transduction. Recently, Dorsomorphin, a signal transduction inhibitor, was found to disable type 1 receptors, and prevent phosphorylation of SMAD (10). However, it might be difficult to specifically target fibrodysplasia bone growth, without also altering normal bone growth and repair. The overlap in systems is a challenging obstacle to

Stickler syndrome, ocular-only variants and a key diagnostic role for the ophthalmologist. (n.d.). Retrieved April 18, 2016, from http://www.nature.com/eye/journal/v25/n11/full/eye2011201a.html

[Name]'s general physical examination is remarkable for his relative microcephaly. He has somewhat of a low brow line. There are no other true dysmorphisms. He has no neurocutaneous stigmata. There is no hepatosplenomegaly. Peripheral pulses are normal.

Achondroplasia can not only be diagnosed on a molecular level, but also on a physical level. Newborns with the disorder usually have abnormally long torsos with noticeably short arms and legs. Their heads are large and their foreheads prominent. They have

Fibrodysplasia Ossificans Progressiva disease also known as ‘FOP’ is a rare genetic disease of the connective tissue. FOP can be characterized by malformations of the big toe. This malformation is a characteristic feature that helps distinguish the disease from other muscle and bone issues. It is a disease that is caused by a mutation in the bodies repair mechanism. This causes muscle and connective tissue such as ligaments and tendons, to be ossified spontaneously or when they are damaged. Sometimes the bone can be permanently frozen in place in some cases. FOP is usually seen in early childhood it starts with the neck and shoulder and proceeds down the body and into the limbs. People who suffer from FOP are basically imprisoned by their own skeleton. Majority of FOP cases are sporadic and are a result from a new gene mutation (Lerardi-Curto and Lynne). This mutation is an autosomal dominant disorder; this means it affects those who are heterozygous with a homozygous recessive partner because of this it means their children will have a fifty percent chance of having FOP. Most cases of FOP are a result from new mutations in the gene. People who have FOP and have the heterozygous phenotype have less severe affects than those who have the homozygous dominant phenotype. Patients who have FOB have the ossification gene that is still working in their bodies and it is usually turned off after a

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.

In vitro: GW788388 inhibited both the TGF-β type I and type II receptor kinase activities, but not that of the related bone morphogenic protein type II receptor. In addition, GW788388 could blockTGF-β-induced Smad activation and target gene expression, while decrease epithelial–mesenchymal

Achondroplasia is the most common diagnosis and most frequent form of those who are considered to be dwarfs (“Learning About”, 2016). When one thinks of dwarfism, they think of a short stature with short arms, legs, and a large head. It occurs in one in every 15,000 to one in 40,000 live births (“Learning About”, 2016). According to BBC News (2005), researchers found that the earliest biological evidence of dwarfs dates back to a Predynastic Period called the "Badarian Period" (4500 BC) in addition to several skeletons from the Old Kingdom (2700 - 2190 BC). There has been evidence of dwarfism in ancient Egyptian times. Dwarfs were held in high regard in ancient Egypt even having two dwarf gods that they worshiped named Ptah and Bes

Over the years, and thanks to the progress of science, the myths that surround these characteristics caused by genetic malformations have been demystified. Other alterations on the other hand, have been caused as side effects of advances of this same science. It is imperative to have control and to study the influential factors in these malformations, to prevent future deficiencies that could be prevented in

The disorder is a syndrome that is found in newborns and children that consisted of osteoporosis with fractures and skeletal deformities (Mccance & Huether, 2014). Its classification is based on both inheritance and clinical findings. In the most severe form of this disorder, the child is usually stillborn or dies soon after birth, but some may survive into childhood. In its more severe forms the signs and symptoms are evident at birth because fractures and deformity have occurred in utero. The less severe forms may be evident until the child starts to walk. Clinical manifestations of this disease are osteoporosis and increased rate of fractures, possible bony deformation, triangular faces, possible vascular weakness, possible blue sclera, and poor dentition (McCance & Huether, 2014). The main errors in this disease is due to the synthesis of collagen, a triple helix that contains two matching alpha chains and one beta chain. Collagen is mostly present in bone, cartilage, eye tissue, skin, and the vascular system. The severity of this disorder phenotype along the related anomalies are primarily dependent on the severity of the genetic anomaly and the part of the triple helix that is affected (Greeley, et al., 2013). Moreover,