Achondroplasia Research Papers

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

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

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.

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

Some more information on Achondroplasia include these. Some tests are Deletion/ Duplication analysis, Linkage analysis, Targeted variant analysis, and Sequence analysis of the entire coding region. It is treated with Height monitored, weight,

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

Surgery. This is rarely needed, but it may be considered in adults who are done growing and continue to have symptoms.

AAT deficiency is caused by a genetic defect (gene mutation). The gene mutation is passed from parent to child (inherited). The disease typically develops only if a person inherits the defective gene from each parent.

2-“Achondroplasia.” Genetic and Rare Diseases Information Center, U.S. Department of Health and Human Services, www.rarediseases.info.nih.gov/diseases/8173/achondroplasia.

There are treatments to make living with this disorder a little easier. Babies born with this need immediate and intensive care in the NICU. Babies born with this are less able to maintain a safe body temperature. They are more prone to fluid loss, dehydration, and life threatening infections. In their first week of life to have any chance of survival they may need: intravenous tubes to deliver fluids and nutrients. They also need monitoring of electrolytes and sodium, lubrication for their eyes if they’re forced open. With having this disorder they have a hard time keeping their body temperatures normal, which means they need help in doing so… They need to be in a high humidity incubator to even maintain a normal body temperature and prevent cracks in their skin. The Doctors can prescribe antibiotics so the infection does not spread any further. Doctor can also prescribe retinoids which is any type of cream to accelerate the shedding of the skins scales. It is an ongoing treatment of keeping the skin moisturized and avoid more scaling or cracking that could lead to more infection. How long do babies diagnosed with this disorder

                 Rett syndrome, including the age of onset and the severity of symptoms, varies from child to child. Before the symptoms begin, however, the child generally appears to grow and develop normally, although there are often subtle abnormalities even in early infancy, such as loss of muscle tone (hypotonia), difficulty feeding, and jerkiness in limb movements. Then, gradually, mental and physical symptoms appear. As the syndrome progresses, the child loses purposeful use of her hands and the ability to speak (Rett Syndrome, 2010). Other early symptoms may include problems crawling or walking and diminished eye contact (Rett Syndrome, 2010). The onset of a period of regression is sometimes sudden.  Apraxia — the inability to perform motor functions — is perhaps the most severely disabling feature of Rett syndrome, interfering with every body movement, including eye gaze

Hypotonia and developmental delay are generally evident by three to six months of age and are the most common symptoms of nervous system impairment. Traits that are present in affected individuals are lack of speech, irritability, late in sitting up, moreover most never crawl or walk. During the first few years of life, dystonia, choreoathetosis, and opisthotonus can present as a result of extrapyramidial involvement. Extensor plantar reflexes, hyperreflexia, and spasticity can occur and are signs of pyramidial involvement. Often, individuals are initially diagnosed with athetoid cerebral palsy due to the similar neurological aspects. Most individuals will never walk and become lifelong wheelchair users due to the extent of motor disability.

Achondroplasia is the disorder that I will be presenting. First, achondroplasia is a form of short-limbed dwarfism. It is where the cartilage it forms into bone instead just being around the bone. There is one gene and chromosome in specific that causes Achondroplasia. The FGFR3 gene and chromosome 4, they are mutated and cause this disorder. Last, there are many symptoms of Achondroplasia. Here are some of the symptoms, the breathing slows or stops for short periods of time, obesity, and recurrent ear infections. This is the description, causes, and they symptoms.

A surgical procedure to limit the growth of a normal leg to allow a short leg to grow to a matching length is an Epiphysiodesis. An epiphysiodesis procedure using guided growth was first recorded in 1933 by Phemister to correct leg-length discrepancies and angular deformities of children.11 This procedure is performed on the epiphyseal plate in one of the patient's legs that slows down the growth of a specific bone and is performed under general anesthesia. A surgeon would make an incision over the epiphyseal plate shown in Figure 1 and at the end of the bone in the longer leg shown. Then proceed to destroy the epiphyseal plate by scraping or drilling a screw or stable to restrict further growth. The percutaneous technique uses the screw or

Achondrogenesis is an unusual genetic disorder. Achondrogenesis causes a person to have a short trunk, small limbs, and a narrow chest. When there is not enough growth hormone(GH) produced in one’s body, this disease will occur. Due to this disorder, bones and cartilage do not properly develop, which cause severe abnormalities in the skeletal system.