Essay On Achondroplastic Dysplasia

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

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

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

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.

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:

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

One of the major underlying commonalities among these children is the extremely low level of growth hormone. In a normal person, these growth

Achondroplasia can be found during pregnancy with a fetal ultrasound. DNA testing has become more common over the past few years. It is used before birth for parents who have a higher chance at having a child with the homeostatic imbalance. Genetic testing is used when a doctor suspects something wrong. The tests search for the abnormal gene from a sample of amniotic fluid. If no signs of achondroplasia are found during pregnancy, the doctor will check the child’s features by looking at their legs, arms, and head to see if they

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

Achondroplasia can be known as dwarfism which is a genetic disease which shows of a disorder in height and bone growth . Achondroplasia is a genetic disease is a cause of Dwarfism. It occurs as a mutation is 80% of cases. It may be inherited autosomal dominant. People with Achondroplasia have a short stature. Identified by an adult 4”10 or under. Achondroplasia can be announced in an ultrasound before your born there is a DNA test.

The juvenile onset of this disease is referred to as gigantism, and has a slightly different mechanism in comparison to acromegaly. Gigantism and acromegaly both are the result of growth hormone hypersecretion. Gigantism causes overgrowth of long bone whereas acromegaly does not stimulate long bone growth but cancellous growth and broadening of extremities and facial features. The physical appearance changes in an individual can be key indicators for acromegaly; confirming the diagnosis is completed by analysis of growth hormone and IGF concentration levels in the blood. Once acromegaly is confirmed, there are various treatment options available for patients including surgery, radiation and medication. There are still many unanswered questions about acromegaly, creating a wide area of research needing to be completed in order to better diagnosis and treat 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

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