Achondroplasia is caused by a mutation in the FGFR3 gene which is located on the fourth chromosome. It is an autosomal gene that is dominant that can be passed down by the parents. Most parents of people who suffer from achondroplasia have parents without the disorder, but new mutations constantly arise with the FGFR3 gene. Normally cartilage converts to bone during human development, but people who suffer from achondroplasia are unable to do so with most cartilage in the body. This is mostly due to the FGFR3 gene producing too many proteins that interfere with human development. Since the proteins cause issues with bone and brain development its symptoms often relate back to the mutations. Achondroplasia is easy to spot as those who suffer from it often have shorter limbs and an enlarged head. Most symptoms involve misshapen limbs or disproportionate body parts that are easy to spot at an early age. Patients also suffer from modern pain due to the lack of proper development. Often a test isn’t needed to confirm if someone has dwarfism, but it is important to know which kind which is why tests are taken to determine if one has achondroplasia. …show more content…
The main way I would consider to cure this disorder would be to start a test to confirm what mutation has occurred in the FGFR3 gene so development for a cure can start. Is it possible to regulate the development of protein growth in the body that will help stop achondroplasia from occurring? This would require a change to each cell in the human body if the gene were to be completely neutralized. Another possible way to do this would be to get rid off groups of the overmade proteins so that the necessary amount could remain while the excess ones were removed. Achondroplasia remains a mystery of how to cure as the only way to truly end it is to stop human development all
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
This syndrome is tested at birth with fluorescent in situ hybridization or FISH. With blood samples, they test the blood for the deletion of chromosome 7. FISH checks if many as of 22-26 genes are deleted. Because there is no cure for this syndrome, you will most likely have physical therapy and early education to help early development symptoms like speech delays and heart problems. This syndrome is not caused by environmental factors, it is completely genetic and NOT the parents fault.
Achondroplasia is the most common form of dwarfism. 1 out of 26,000 to 40,000 babies have achondroplasia and it is noticeable at birth. People with achnodroplasia are characterized by having small arms and legs, a small body, and sometimes crowded teeth. A less common form of dwarfism is Spondyloepiphyseal Dysplasias (SED). About 1 in 95,000 babies get this form of dwarfism. They are usually characterized by a shortened trunk, club feet, and weak hands and feet. The most rare form of dwarfism is Diastropic Dysplasia. This occurs in about 1 in 100,000 births. People with this type usually have shortened forearms and calves, deformed hand and feet, limited range in motion, and a cleft palate. (Webmd, April 8, 2005, March 28, 2014.) To be considered a dwarf, the height of the person must be 4 feet 11 inches and under.
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,
This syndrome is from a mutation of a gene on chromosome 15 and this causes problems in the production of fibrillin-1 which is a protein that is an important part of connective tissue. The name for the gene is FBN1. Basically, it is the “glue” that helps to support the tissues in the human body. A child born to a parent with this syndrome has a 50% of having it. However, in the remaining 25%, neither parent has the disease which gives them a 1 in 10,000 chance of having a child with this disorder. When a child of two unaffected parents is born with it then the genetic mutation occurs in either the egg or sperm cell at the time of conception.
Researchers believe the mutation of this gene causes too much bone to grow instead of muscle.
There is no cure for FAS. However, the earlier this condition is treated, the better the outcome will be for the child. It is best for a child to start treatment before going to preschool. Parents of children with FAS will typically have to work with a team that consists of psychologists, doctors, nurses and social
There is potentially no cure whatsoever. Wants the damage is done, the damage is done, FAS is a life threatening irreversible condition that facts thousands a year. However, there are ways to improve how one lives with FAS. Such as speech therapy. Speech therapy helps a person with severe
Cystic Fibrosis an inherited genetic disorder. This disorder is present when a child has 2 abnormal copies of the CFTR gene. There is a defect or a mutation in this gene that changes the protein which regulates the movement of salt in and out of cells. A mutation or defect is an alteration. This means that there is a change in the CFTR gene which causes it to perform improperly.
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.
A permanent change in a gene that can be passed on to children. The rare, early-onset familial
Currently, there is no definite cure for treating cystic fibrosis. There are many varieties of treatment depends on the stages of the disease, and which organ has been affected.
Familial Dysautonmia is passed on through genetics. It is very rare because it is a recessive gene. Both parents will have to have a mutilation for a child to get Familial Dysautonmia. Some people may have the mutated gene, but not show symptoms of Familial Dysautonmia. It is from a mutation in the IKBKAP gene. Think of genes