Achondroplasia Essay

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 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.

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.

These mutations are also called germline mutations because they are present in the parent’s egg or sperm

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.

The testes are one of the physical differences that are seen within men that has this disorder with the assumption that theses phenotypic differences are contingent to the proximity of the SRY gene in addition to the absence of the rearrangement that directly modifies SRY gene expression. The rearrangement of the SRY gene can cause a cascade of effects especially with the expression of the SOX 9. The influence of SOX 9 aids in the function of testes development. PCR assay have been utilized in order to reveal the significance of SOX 9 and how it aids in the development. The PCR assay sequenced genes that were used in the coding section of SOX 9, but the specific strain that was used not clearly defined. It was shown through three assays that it confirmed the idea that if the SRY gene were not present it would aid in the mutation of testicular development. Although this experiment was proved to show definite results, it did not show what the three independent PCRs were specifically targeting in the assay. The author was trying to prove that without the SRY gene a male phenotype would still develop, but the physical appearances of these men would be slightly modified to be less normal with small testes that were deemed infertile. The results that were displayed has risen more questions then finding a closer clue as to how the SRY gene could make a man infertile with malformation of the testes. Instead it questioned whether or not the SRY gene could ultimately be the cause of infertility despite having the mutation

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 to bone, a development known as ossification, predominantly in the longer bones of the arms, such as the humerus, ulna and radius, and legs, which include the femur, tibia and fibula. Achondroplasia is comparable to additional skeletal syndromes known as hypochondroplasia, but the structures of achondroplasia have a tendency to be more intense. All people suffering with the genetic disorder achondroplasia are very short in physique. The typical height of a mature male with achondroplasia is 131 centimeters, or 4 feet 4 inches, and the typical height for mature females is 124 centimeters, or 4 feet 1 inch. It occurs in every 1 in 40,000 newborns making it the most known category of short limbed dwarfism.

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

Seckel Syndrome is a rare AR inherited trait with the malformation. The male to female sex ratio 9:11. This syndrome is a heterogeneous form of primordial dwarfism. The synonyms of this syndrome include seckel dwarfism, bird head dwarfism, nanocephalic dwarfism and microcephalic primordial dwarfism. Rudolph Virchow introduced the term “bird headed dwarf” in the context of proportionate dwarfism with low birth weight, mental retardation, a pointed nose, and micrognathia.

Dear Patient, I'm sorry to inform you but your daughter has Achondroplasia, a growth condition your child has been born with. 1 out of 15,000 births in the United States experience this condition like your daughter ( National Institutes of Health. (n.d.). The reason this happen is actually unknown, the only way we can see this birth defect happiness is when either your husband's sperm or your egg was effected before she was born. ( Mayo Clinic Staff. (2016, April 03). the Symptoms are twisted elbows and feet, a abnormally long or short trunk, and the height under 4 feet 10 inches. ( Mayo Clinic Staff. (2016, April 03). The way we spotted this condition was when you had your ultrasound and found the fetus had shorten bones, we had a Amniocentesis test and it confirmed Achondroplasia. (March of Dimes. (April, 2013). Sadly Achondroplasia is not curable but to take some steps to improve your daughters health are hormone therapies to help increase bone growth or you can have surgery to add gaps in her bones to grow. (Mayo Clinic Staff. (2016, April 03). The best thing in my opinion as a professional is to treat her as a normal person and to help her in time of

ABNORMALITIES: The abnormalities regarding growth are- Prenatal onset of marked growth deficiency. Average birth weight at term is 1543g (1000 to 2005g) Mean postnatal growth is 1543 deficiency is -7.1 SD +/- 2.08. One adult was 104 cm. Delayed bone age. Genitalia showing Cryptorchidism. In Craniofacies abnormalities are: Microcephaly with secondary premature synostosis. In one-half of cases, head circumference is more retarded than height, while for the remainder it is as retarded as height. Receding forehead. Prominent nose, micrognathia, low- set malformed

It has been found that the symptoms of Achondroplasia contain the most commonly seen ones for people with dwarfism. Such as, a short stature, legs, and arms, limited movements in the area of the elbows, an abnormal head size which contains a significant forehead and a compressed nose bridge, an estimated height of 4 feet, short fingers with a detachment in between the middle and ring finger, a projecting jaw, crowded teeth, and a development of bowed legs. Health experts also uncovered the symptoms of less common types, such as diastrophic dysplasia and spondyloepiphyseal dysplasias. Diastrophic dysplasia may include symptoms such as deformation in hands and feet and restricted movements. On the other hand, Spondyloepiphyseal dysplasias can

Dysautonomia, also known as Autonomic Dysfunction, is an umbrella term used for over one dozen debilitating illnesses. Dysautonomia is the result of issues within the autonomic nervous system, and while the effects of it are very real, it is often hard to detect. Thus, it is often called an invisible disease, because when doing lab work and other tests, oftentimes, the results come back completely normal. Patients who have experienced forms of dysautonomia know the frustration all too well of experiencing inability to function normally, yet finding out that nothing seems to be wrong. In order to understand dysautonomia, one must first understand the autonomic nervous system.

Pituitary Dwarfism is a disease where the growth of someone is slowed or delayed, usually due to a malfunction in the pituitary gland and it results in a less than normal stature. It takes place in the pituitary gland which regulates the production of hormones and it causes normal stature with short limbs. Since the height and growth is decreased, it results in what many people refer to as a “midget.” The Pituitary gland produces many hormones such as the growth hormone, luteinizing, thyroid, prolactin, follicle-stimulating, and oxytocin. A decrease in the production of hormones in the anterior pituitary is what causes most forms of dwarfism. The decrease occurs during childhood, and it causes the body to be developed proportionately, but at