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Article and research paper on achondroplasia
Article and research paper on achondroplasia
Article and research paper on achondroplasia
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Achondroplasia is a genetic bone growth disorder. It is the most common form of disproportionate short stature, dwarfism. It occurs in one in every 15,000 to 40,000 births. The disorder is inherited in an autosomal dominant manner, but over 80% of cases are spontaneous mutations. The risk is increased with advanced parental age. Achondroplasia generates from a mutated FGFR3 gene. Unfortunately this disorder cannot be cured, but research is being dedicated to finding a cure. (Learning about Achondroplasia, May 11, 2012)
Inheritance/Causes
Achondroplasia (ACH) is a genetic disorder that is inherited as an autosomal dominant trait. This means that the disorder is not X or Y linked and is caused by the mutation of any other type of chromosome. Since ACH is a dominant disorder, meaning only one copy of a gene has a mutation or a mistake; it only takes one parent to cause the gene mutations. Dominant disorders are not inherited from mutated gene in the parent; they are new mutated genes that develop in the child, which is why people that suffer from Achondroplasia can have average-sized kids. ACH is a birth defect that is caused by mutations in the Fibroblast Growth Factor Receptor 3 (FGFR3) gene. FGFR3 is the protein responsible for lengthening bones. Its specific role is to slow down bone growth and balance the effects of other receptors and molecules that encourage growth. When FGFR3 is active, bone growth is slowed and when it’s inactive, bone growth accelerates. In people that suffer from Achondroplasia, FGFR3 is never in inactive so their bone growth never accelerates. Mutations on the FGFR3 gene are what prevent the growth of cartilage. When the receptor (R) of FGFR3 is missing, the growth factor can’t act properly and the growth...
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...ted money to many organizations like the Greenberg Foundation at John Hopkins Hospital. TBFA has many big-name sponsors like ESPN, Disney, Starbucks, and Horizon Blue Cross Blue Shield. (Teddy Bear Foundation for Achondroplasia)
Conclusion
It is pretty outstanding how Achondroplasia is such a common disorder. However, what is really mind boggling is that there is still no cure or treatment that a person could go through. Since the disorder is so common and so impactful, you would think more research would be dedicated to finding a cure. Achondroplasia has many painful side effects and causes much strain on people’s lives. If a person suffers from Achondroplasia and decides to have kids, they have a 50% chance of passing it on to their children. Overall, Achondroplasia is a debilitating autosomal disorder that causes unnecessary amounts of strain on everyday lives.
Fibrodysplasia ossificans progressiva also known as FOP is a one of the rarest, most disabling genetic bone conditions known to medicine. FOP causes muscles, tendons, ligaments, and other connective tissues to turn in to bone. Movement becomes limited in the affected areas of the body. People with FOP typically have malformed toes at birth, meaning the big toe is typically shorter than normal and abnormally turned outward in a position called a valgus deviation. Symptoms of FOP start to show up in early childhood. Most people with FOP develop painful tumor-like swellings also known as fibrous nodules. The fibrous nodules are visible on the neck, shoulders, and back.
ACHONDROPLASIA is known as being undersized, or less than 50in. in height. Having short limbs, a normal sized trunk, large head with a depressed nasal bridge and small face. This is a result of a disease in the thyroid gland. It can also be caused by Down syndrome or absorption, a cartilaginous tissue during the fetal stage. Hypochondroplasia, a mild form of dwarfism. Spinal tuberculosis and the deficiency of the pituitary gland secretions. Treatment with thyroxin or thyroid extract early in childhood results in normal growth and development. Somatrophin, also known as the human growth hormone is secreted by the anterior pituitary. Respiratory problems start to occur in infants. Symptoms of problems include snoring and sleeping with neck in a hyperextended condition. The limbs have rhizometic shortening. The legs are straight in infantry but when a child. He begins walking they develop a knock-knee position. When the child continues to walk legs begin to have a bowed-leg look. Occasionally, these curvatures are fixed. As the child continues to walk the kyphosis disappears and the back assumes a lordotic posture. If a delay in child’s walking occurs, the spine should be monitored closely for signs of gibbous formation. In infancy, hypercephalus can occur. Infants head circumference should be monitored close . Monthly checks of head circumference must be monitored. Radiologic studies are indicated if head circumference raises to disproportionately, or if symptoms of hydrocephalus. Child’s pediatrician should have a copy of head circumference curves for children with achondroplasia. Radiologic procedures for dwarfism include head ultrasound, C-T scan, or MRI of the head. If intervention is necessary, a ventriculoperitoneal shunt is placed relieving the pressure. Infants should also be monitored for foramen magnum compression. It is the opening at the base of the skull in which the brain stem and cervical spinal cord exit. When you have achondroplasia the foramen magnum is compressing the brain stem and spinal cord. Symptoms of narrowing include apnea the cessation of breathing and cervical myleopathy. C-T scans and MRI scans are done to examine the size of the infectious foramen magnum. A neurosurgical procedure called a foramen magnum decompression is executed to alarge foramen and alleviate further symptoms. Adolescents are at risk of getting lumbosacral spinal stenosis. The lumber spinal cord or nerve roots become compressed producing nerosurgical symptoms. Initial symptoms including weakness, tingling, and pain of the legs. Pain usually alleviated by assuming a squatting position.
Throughout this semester, I have gained a abundance of information on genetics that I never knew, but reading the book "Mendel 's Dwarf" did make it a little bit more difficult for me to understand genetics. After looking back at my notes I remembered early in the semester our professor discussing the condition that Dr. Benedict Lambert suffers from which is Achondroplasia(dwarfism). Achondroplasia is condition of short limbs, usually in arms and legs, the torso and head size is majority of the time normal. Simon Mawer describe Dr. Lambert body as "His body is not normal, his is not normal, his limbs are not normal. He possesses a massive forehead and blunt, puglike features. His nose is stove in at the bridge, his mouth and jaw protrude. His
The range and severity of symptoms and findings may be extremely variable, including among affected members of the same family. However, primary findings may include premature closure of the fibrous joints between certain bones of the skull, unusually flat, underdeveloped midfacial regions abnormally broad great toes, and/or malformation or fusion of certain bones within the feet. In some cases, Jackson-Weiss Syndrome may result from new genetic changes that appear to occur randomly for unknown reasons. In other affected individuals, the disorder may be inherited. Mutations in the FGFR2 gene cause Jackson–Weiss syndrome. The FGFR2 gene produces a protein called
Osteogenesis Imperfecta (OI), also called fragile bone ailment or Lobstein disorder, is an inherent bone issue portrayed by weak bones that are inclined to break effortlessly with practically zero cause. A arrangement of various sorts of OI is regularly used to depict how seriously a man with OI is affected.OI is brought on by hereditary deformities that influence the body's capacity to make solid bones. In predominant established OI, a man has too little sort I collagen or a low quality of sort I collagen because of a transformation in one of the sort I collagen qualities which makes the bones
As a non-profit organization, CHN relies on corporate, and TV/media partnerships to continue to provide the services they offer to the 170 children’s hospitals. These fundraisers are done in several ways the very first means of donation came from a telethon conducting in 1983 by founders Marie Osmond, John Schneider, Mick Shannon, and Joe Lake. After the success of the telethon with nearly 4.8 million dollars raised, many large corporations joined in the efforts to provide resources for sick and injured children. Many high-name corporations such as Marriott International, Walmart, Sam’s Club, Cosco, Dairy Queen and Ace Hardware are leading participants in donations. These donations are done in the form of tournaments, relays, telethons, and various other marathons. One of the most well-known forms of donations is done though the CMN paper balloon sales. Many of the named above stores, as well as many others s...
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 are considered people with supernatural powers. Many people call dwarfs midgets, but to them, it is very disrespectful because midget literally means little person.
Initially, the organization was funded by a single donor who is credited as its founder, actor and producer Paul Walker. ...
Symptoms of elephantiasis are enlargement and swelling of a part of the body due to the blockage of the lymphatic nodes. The lymphatic system is not able to take out the extra fluid of the body which causes an accumulation of body fluid. The arms and legs are the most affected areas in the body. It can swell to more than three times of its normal shape. Affected areas will have malformed shapes; skin and tissue will become thick and appear to look like an elephant’s leg. The skin of the affected areas becomes extremely dry, thickened (hyperkeratosis), and discolored. Other symptoms may include Fever, chills, and a feeling of sickness. Elephantiasis may affect the male and female external genital area. Some male suffer from enlargement of the scrotum, in some cases scrotum can become abnormally enlarged and can weigh over 100 lb. The penis may be hidden under the skin. In some women the external area of the genitalia will appear thickened and ulcerated rough skin may develop. The breasts may become enlarged. Infected individuals are susceptible to bacterial and fungal due to the damage of the lymphatic system. Infections may become worsen due to the lack of immunity caused by a damaged lymphatic system. People affected by this disease may experience severe pain and a burning
Osteogenesis imperfecta (OI), also known as brittle bone disease, is a rare genetic disorder with the main characteristic being that the bones break very easily, usually for no apparent reason. The major cause of osteogenesis imperfecta is a mutation in the genes that produce collagen. Collagen is the main protein that works toward the production of connective tissue. Individuals with this disorder will produce less collagen than needed, which causes the bone development to be endangered. This could result in bone deformities. There are four types of osteogenesis imperfecta, and in all four types you will see bone fragility with multiple fractures and bone deformities.
Catherine and Kirstie Fields are twins from Wales and the disease is named after them. The disease causes muscular degeneration. Fortunately those two girls are still alive and there has been no mutation in their brains and their personalities also have not changed.
is a hereditary predisposition to this disorder. Also, the way a child is raised can greatly increase
Fractures are life-threatening to aged people having the metabolic bone disease OSTEOPOROSIS, in which bones become porous and brittle. A person, mostly women, having osteoporosis may break a hip during a fall and possibly die from complications. Birth Defects Congenital bone diseases constitute a wide spectrum, ranging from the unimportant--for instance, mild bow legs--to severe lesions, such as spina bifida, in which the lower end of the spine fails to develop properly and the baby is born with paralysis and misshapen vertebrae. Congenital diseases may have hormonal bases: for example, fibrous DYSPLASIA, in which fibrous tissue replaces that of some bones, often results in bone deformity; in addition, some girls with this disease physically mature so early that they are capable of pregnancy and childbirth at the age of seven.
To raise money and awareness of children with cancer, the money mostly goes to research that supports new treatments and cures. The organization has several different programs that benefit cancer research, such as the Alex Gordon baseball tournament, Denver lemon climb, telethons, and many more. A few celebrities support their foundation, like Bailee Madison and Alex Gordon. They are dedicated to helping kids with cancer and want to make a difference. A Helping Hand: The ALSF uses the money they raise to help pay for research to help kids with cancer.
Because of this, many researchers are searching for a way to help treat or cure this disorder in