Achondroplasia

Achondroplasia is one type of short-limbed dwarfism where arms and legs are smaller in length but the head and torso look as if there is no deficiency. The word achondroplasia is derived from the phase "lacking cartilage development." Cartilage is hard and durable but is also a flexible tissue that makes up most of the bone structure during the early stages of development. Nonetheless, in achondroplasia there is no problem with developing cartilage, but instead the problem comes in converting it

genome, a fundamental building block of DNA. Achondroplasia has been classified for a long period of time, but it was only around twenty years ago that the cause was discovered. This disorder happens to be caused by a simple change of base in an autosomal chromosome. This is commonly a transitional mutation that causes a simple change in protein structure. Most of the individuals with Achondroplasia have similar mutations at a common nucleotide. Achondroplasia is a classification of dwarfism, which is

such as dwarfism. There are many types of dwarfism beginning with the most common types to the rarest with Achondroplasia, Spondyloepiphyseal Dysplasia, and Diastrophic Dysplasia. To begin with, Achondroplasia is a disorder of bone growth (Learning About Achondroplasia, n.d.) and is the most common type of dwarfism. The term in itself literally means “without cartilage formation” (Achondroplasia, n.d.). This type of dwarfism occurs in one in 15,000 to one in 40,000 live births due to a gene mutation

Bibliography 1-2013, Boston Children's Hospital. “Achondroplasia | Symptoms and Causes.” Boston Childrens Hospital, Harvard Medical School (Teaching Hospital), www.childrenshospital.org/conditions-and-treatments/conditions/achondroplasia/symptoms-and-causes. This website is a great website for parents who want to learn basic information on the disorder. It gives what the main symptoms are and how the disorder occurs. It explains what the treatments are and how the disorder is diagnosed in a clear

Achondroplasia is a disorder most commonly associated with its expression of dwarfism in those affected by it. Also referred to as Achondroplastic Dwarfism and sometimes abbreviated ACH, a common definition follows that it is a genetic disorder disturbing the normal growth of cartilage. This disorder, which affects all populations and is indifferent to gender, occurs when there is a mutation in one specific gene; the FGFR3 gene, on chromosome four. This mutation typically occurs as a de-novo gene

with prevalence there is also the term incidence, this usually refers to a yearly diagnosis rate and thr rate of new cases. The Genetics Home Reference states “More than 200 different conditions can cause dwarfism”(..). A single type, called achondroplasia,

or shorter. The most common type of dwarfism is Achondroplasia. Dwarfs, or little people, still live fairly normal lives. Most dwarfism-related conditions are genetic disorder, but the causes of some are unknown. Most occurrences result from a random genetic mutation in the mother’s egg or the father’s sperm rather than from either parent’s complete genetic makeup. Achondroplasia is the most common type of dwarfism. Infants born with achondroplasia typically have an arched skull to accommodate an

even if the child does not have one of their mutant genes. They wanted the child to be a dwarf just like themselves. In the parents’ view, they did not want to face the difficulties of raising a normal-sized child or raise a child with achondroplasia. Achondroplasia is a serious bone disorder, where the bones are abnormal and the person is often in a

” As you can see genetic testing is very important and can affect a child's and parents lives for the better and the worst. Children all over the world have serious genetic diseases that affect their life on a daily. Some of these diseases are Achondroplasia, Down syndrome, and Turner's syndrome. Many believe genetic testing is a good way to test for these genetic conditions before the child is even born, but others think that it can harm the baby very badly and even cause a miscarriage, so they choose

Dwarfism is usually caused by genes. Achondroplasia is a skeletal condition which causes dwarfism. Some adult heights were recorded as short as 64 cm. Some Dwarfs can be proportionate or disproportionate. This is usually because of the inhibition of the development of bones. Dwarfism is caused by the FGFR3 gene. A person with achondroplasia and with two average-size parents received one mutated copy of the gene and one normal copy of the gene. A person with achondroplasia may pass along either a mutated