Essay On Achondroplastic Dysplasia

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.

The provider is correct that short stature is not necessary for the diagnosis of growth hormone deficiency if the member is short for expected height; however, this member’s height has never clearly been outside the expected range for family. It also can be argued that delay in growth velocity can be masked by the pubertal growth spurt. However, review of the growth charts provided by the member’s primary care physician and endocrinologist does not clearly demonstrate abnormal growth velocity. While he did have one point that dipped down to the 10th percentile, overall his points are between the 10th and 25th percentiles and generally follow the same curve, indicating that one point is likely aberrant or perhaps consistent with normal prepubertal slowing in growth. After puberty started, the member grew at the upper end of the normal range, which is generally not seen in growth hormone

Joey Jones, a 14-year-old African American child who just seems too tall, is referred to genetic clinic. A physical exam revealed the following parameters and features:

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

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.

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.

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

Psychogenic dwarfism is a growth disorder that is observed between the ages of 2 and 15, caused by extreme emotional deprivation. The symptoms include decreased growth hormone (GH) secretion, very short stature, weight that is inappropriate for the height, and immature skeletal age. This disease is a progressive one, and as long as the child is left in the stressing environment, his or her cognitive and linear abilities continue to degenerate (3).

Disney released the classic film “Pocahontas” on June 23, 1995 about a young girl who is a member of the Algonquin tribe with her father being the Chief. The movie takes place near Jamestown in the early 1600’s. Pocahontas father, has arranged for her to marry a man,Kocoum, who is thought to be the greatest warrior in the village. Pocahontas, was not too thrilled about the idea and felt like there was something better awaiting her. Meanwhile, Captain John Smith along with Governor Ratcliffe and other English soldiers and sailors are aboard a ship in hopes of finding riches from the New World to bring to their home to England.

It is no secret that children’s growth and development is an ever-changing and at times difficult aspect on life. In most cases, changes in both mass and stature occur for girls from ages 10-12 and in boys from ages 12-14. Most of the growth during this time for both girls and boys occurs in their legs. For example, at age five, leg length is about 45% of total height while at age 10 the

Disproportionate dwarfism in Labrador Retrievers: Disproportionate dwarfism is characterized by one or more body parts being smaller in comparison to overall size. It generally occurs due to a mutated COL11A2 gene resulting in mild disproportionate dwarfism in the Labrador retriever known as skeletal dysplasia 2 (SD2) and can be tested by Labrador retriever genetic DNA testing. Dogs inheriting SD2 develop legs that are shorter than the recognized breed standard despite a normal sized body. Most commonly, front limbs are more severely affected than hind legs with this disorder. Physical

Kirches conducted a case study in which the hereditary movement of LHONs was observed. In this study, it was found that LHONs can cause an acute loss of retinal ganglion cells and their axons. According to this study “RGC loss occurs in about 50% of male and only 10-15% of female mutation carriers” this shows evidence that men are more effected by LHONs it also shows why women do not show symptoms of LHONs (Kirches 2011 n.pg). Showing the true causes of blindness presented with

Biology mainly concentrates on the study of life and any other factors that affect it positively or negatively. The study of biology is further sub-divided into sections and the most important being genetics that studies the genetically composition and effects to human life. For instance, gigantism which is an abnormal growth caused by the excess hormone growth at childhood before the bone plates closes. Though gigantism is rare, it is caused due to some factors among them; Noncancerous tumor of the pituitary gland, Neurofibromatosis, McCune-Albright Syndrome (MAS), Carney complex and Multiple Endocrine Neoplasia type 1(MEN-1). This abnormal growth occurs mainly before the closure of the bone growth plate. In any case the

In the New Testament, all the focus is on the reality of the glory of Christ, not the shadow and copy of religious objects and forms. It is stunning how indifferent the New Testament is to such things: there is no authorization in the New Testament for worship buildings, or worship dress, or worship times, or worship music, or worship liturgy or worship size or thirty-five-minute sermons, or Advent poems or choirs or instruments or candles.... Almost every worship tradition we have is culturally shaped rather than Biblically commanded. The New Testament doesn't give us much specific instruction on how to do church, that is, the cultic gathering.

In the last few decades Nigeria has experienced violent conflicts and antagonism rooted in religion, ethnicity, and economics. communal conflicts in Tiv land area of the Middle Belt region of Nigeria are not an exception. This paper (1) examines the causes of communal conflict in Tivland (2),challenges,as well as the(3) strategies of resolving and managing conflicts in Tivland and society in general.