What is Anchodroplasia?

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

Nevertheless, the unidentified person may have had malnutrition, which would lead to stunted growth in certain areas that happened to not affect the humerus or femur. Back to how the results came out, the students plugged the measurements into certain formulas according to race and gender. By having these differences in formula, it made it more accurate because each race and gender, due to genetics, can make the height different.

Genetics determine the traits an individual will inherit from their parents. In society today, the role of genetics is crucial; they decide ones physical appearance as well as their personality. However, if there is a mutation located in one of the genes that a child receives it is very likely a deformity will be present. A rare yet fatal defect from a gene mutation such as this is Progeria. This disorder is an unfortunate one that may occur in two forms, either Hutchison-Gilford Progeria or Werner syndrome. Not only do they affect the bone structure and appearance of the child, but they substantially shorten their life spans.

Some of the signs of FOP are the malformation of the big toe at birth, which can be short, bent or curved inward and help clarify the diagnosis ("IFOP a website," 30 M). However, sometimes the doctors overlook this malformation in that cases there are other signs you can look for. As infants most children crawl on there hands and knees though, infants with FOP rather than crawling they usually scoot on their gluteus maximus; then proceed straight to walking. The reason for this is ether the facet joints in the neck did not form properly or they have fused together ("IFOP a website," 30 M). Although, with FOP being congenital it starts before birth, though the extra bone growth does not. Symptoms often or usually begin in the first two decades of life and most people who are affected find out they have FOP before the age of ten ("IFOP a website," 30 M). Inflammation of the soft tissues in the body such as muscles, tendons and ligaments throughout become swollen and sometimes painful and often appear to be tumors ("IFOP a website," 30 M). However, once the swelling subsides it leaves behind a new piece of mature bone ("IFOP a website," 30 M). Typically, the inflammation and bone growth occurs in the shoulders, neck and upper back regions in early child hood followed by the areas of the spine, chest, elbows, wrists, hips, knees, ankles and jaw ("IFOP a website," 30 M). However, the growth rates of new bone

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

Some ways to detect Progeria are genetic tests of the patient’s blood and clinical exams. Furthermore, the major signs begin developing when the child is around eighteen to twenty-four months old and he will experience accelerated aging even though he was born looking normal. One major symptom is hair loss. Patients are born with hair texture and color, but around six months to two years, the hair begins to fall out. Then, from two to three years, they are usually bald, but might have some thin, light hair. Loss of eyelashes and eyebrows are also experienced. Along with hair loss, these children grow slowly resulting in a shrunken physique and minimal weight gain. For males, their approximate height and weight are 40 inches and 25 pounds; but females are about 32 inches and 20 pounds. In When Good Things Happen to Bad People, doctors have stated these kids will "grow to be very short," and "would never grow much beyond three feet."( Kusher 1-2) Moreover, there are distinctive physical traits in the face and body. "By the second year of life, there is also under development (hypoplasia) of the facial bones and the lower jaw." ("Hutchinson-Gilford Progeria") Also, "the face appears disproportionately small in comparison to the head, and bones of the front and the sides of the skull (cranium) are unusually prominent." ("Hutchinson-Gilford Progeria") Some other characteristics observed in the face are a thin

Fibrodysplasia Ossificans Progressiva disease also known as ‘FOP’ is a rare genetic disease of the connective tissue. FOP can be characterized by malformations of the big toe. This malformation is a characteristic feature that helps distinguish the disease from other muscle and bone issues. It is a disease that is caused by a mutation in the bodies repair mechanism. This causes muscle and connective tissue such as ligaments and tendons, to be ossified spontaneously or when they are damaged. Sometimes the bone can be permanently frozen in place in some cases. FOP is usually seen in early childhood it starts with the neck and shoulder and proceeds down the body and into the limbs. People who suffer from FOP are basically imprisoned by their own skeleton. Majority of FOP cases are sporadic and are a result from a new gene mutation (Lerardi-Curto and Lynne). This mutation is an autosomal dominant disorder; this means it affects those who are heterozygous with a homozygous recessive partner because of this it means their children will have a fifty percent chance of having FOP. Most cases of FOP are a result from new mutations in the gene. People who have FOP and have the heterozygous phenotype have less severe affects than those who have the homozygous dominant phenotype. Patients who have FOB have the ossification gene that is still working in their bodies and it is usually turned off after a

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

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

Metatropic dysplasia, also known as metatropic dwarfism is a very rare disease in humans that is often deadly and identifiable after birth or into the infant stages of a baby. It has been discussed that MTD is in part caused by mutations in the TRVP4 gene. This is located at 12q24.1 which is the long (q) arm of chromosome 12 at position 24.1, base pairs 109,784,087 to 109,833,407. There have been approximately 81 cases reported so far with odds of 1/1,000,000. A few cases have been severe to the point of endangering the mother’s life. This type of dwarfism affects the human skeleton in such a way that affects normal growth. Body proportions are abnormal, and a child will have unusual features such as shorter limbs, a narrow chest, and bones that have not developed correctly. Several facial deformities

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

Imagine being a kid, going to school and struggling a little more than everyone else. You're the tallest in your class, and different than your friends. You can’t pronounce words as well as they can, and they can’t really understand you. You have to have special classes to help with your learning disabilities. These things describe XYY Syndrome, also known as 47, XYY Syndrome; Jacob’s Syndrome; XYY Karyotype; and YY Syndrome. (NORD). It is a genetic disease in which males have an extra Y chromosome due to an error in cell division.

Short stature is a common reason for referral to pediatric clinics, regardless of the cause whether it is chronic disease, familial short stature, or constitutional delay of growth and puberty. Moreover, there are many established maternal risk factors for SGA which include poor maternal weight gain in pregnancy due to insufficient diet, medical history of chronic hypertension and renal

Cryptosporidiosis is a world-wide disease which has emerged over the last years, affecting birds, reptiles and mammals including humans. The illness is caused by the protozoan parasite Cryptosporidium (OIE, 2008); considered a major food and waterborne pathogen (Carmena, 2010), responsible for a series of gastrointestinal problems, being diarrhoea the most common symptom in animals and humans (Rossle and Latif, 2013). More than 20 species of the parasite have been recognised (OIE, 2008), however; Cryptosporidium parvum (C. parvum) and Cryptosporidium hominis (C. hominis) are primarily transmitted to humans (Rossle and Latif, 2013; WHO, 2006). This zoonosis is associated with poor faecal-oral hygiene, considering water and food the most usual