Achrondoplasia 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 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

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,

with Cornelia de Lange syndrome tend to be short in stature, with height and weight falling

To start, it is a congenital disorder, meaning noticeable symptoms or physical malformations occur before birth. A common observable malformation signifying FOP at birth, are the abnormal position and structure of the big toes (5). The disorder slowly consumes an individual’s life by adding bone to muscle tissue, and other areas not normally needing bone. This process is known as

Hypospadias is noticed at birth; however, if the abnormalities are mild it may be harder to diagnosis and may be diagnosis later.

With all the studies that have been done to see what are the cause of Cornelia de Lange Syndrome its unknown in 30% of people diagnose with it. Researchers are still looking at why the five know genes are causing this condition. One way to test for this syndrome early on is prenatal testing. Ways Cornelia de Lange Syndrome can be known before the infant is born is through an ultrasound. By looking at the hands to find any limb abnormalities and the size of the head along with infant heart. During the ultrasound on the mother they are also checking and measuring for abnormal growth with poor fetal growth. It has been shown that data collected that the child is more prone to have upper limbs and macrocephaly. During the 18weeks of the mothers pregnancy the ultrasound techechian will be measuring the fetus from skull to feet. It’s a common way that Cornelia de Lange Syndrome is first recognized or suspected. During the ultrasound of the fetus it’s when they can view facial features and are able to view cleft lip small upturned nose that are commonly associated with Cornelia de Lange syndrome. It is important to remember that an ultrasound is not to be relayed for diagnosing Cornelia de Lange syndrome because there can me possibility of ultrasound tech not finding the abnormalities since they are not that

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

Spondyloepiphyseal dysplasia is a type of dwarfism. Dwarfism is a disorder can happen because of several different reasons. This type of dwarfism occurs because of a defective gene from at least one parent that is passed down to its offspring, but could also occur because of a new mutation in the gene passed down. Although there are different types of dwarfism they all cause the person to be short, and sometimes disfigured or distorted. This type and most of the others not only affect the persons legs, but can also effect different parts of their body. There are treatments to help with these other problems that go with dwarfism, but you can not fully get rid of it.

It is very easily diagnosed at birth because of physical attributes the baby may have including, low muscle tone, flat face, an upward slant to the eyes, small skin folds in the inner corner of the eyes, as well as a bigger than normal space in between the big toe and the second toe (National Down Syndrome

The diagnosis of the disease, its cause or causes, stage, treatment and prognosis will be sought from the pediatrician. He establishes and explains the connection between the disease and the patient's family history. He prescribes appropriate medicines and medications to alleviate the patient's symptoms. The moral principles surrounding the couple's decision concerning the disease are contributed by the ethicist. He warns against the double-effect situation in this disease condition. He emphasizes that birth defects

During the previous life stage, Early Adolescence, several developmental tasks had to be dealt with by the subject. While physical maturation was going on Anne had problems with severe acne and had no real growth spurt. To this day she remains only five feet tall. Her development of formal operations came at a normal rate for adolescence. However, during these years