Genetic Disorder Paper

708 Words2 Pages
bulb-icon

Recommended: Psychological disorders

11618

“Achondroplasia is a disorder of bone growth. It is the most common form of disproportionate short stature. It occurs in one in every 15,000 to one in 40,000 live births. Achondroplasia is caused by a gene alteration (mutation) in the FGFR3 gene. The FGFR3 gene makes a protein called fibroblast growth factor receptor 3 that is involved in converting cartilage to bone. FGFR3 is the only gene known to be associated with achondroplasia. All people who have only a single copy of the normal FGFR3 gene and a single copy of the FGFR3 gene mutation have achondroplasia.” (genome.gov)

Description:
Most dwarfing conditions are described as either short-limbed or short-trunked dwarfism. Achondroplasia is a form of short-limbed dwarfism. This means that their sitting height is within range of an average person’s sitting height, but their legs are just shorter. The disorder’s involvement tends to be rhizomelic, which means the thighs and arms are shorter, rather than the calves and forearms. The most common problem with Achondroplasia is the abnormal bone growth during development. Because of this, the features are able to be seen at birth (medscape.com).
Epidemiology:
The size of the victim’s parents does not matter when being affected by Achondroplasia. Since the disorder is the result of a genetic mutation, anyone can get it. However, parents with the disorder will always pass on the disease (medscape).
Approximately 10,000 individuals in the U.S. are affected by Achondroplasia, and about 190,000 people in the world are afflicted with this disorder.Achondroplasia also affects about eighty percent of dwarfs. The disorder occurs in all races equally, as well as genders (medscape.com).

Modes of Inheritance:
Achondroplasia is no...

... middle of paper ...

...r the first year of life, and they can go on to lead fulfilling lives. They do, however, have more bone and spinal problems, and should avoid high-impact sports because so.

Works Cited:
Emerging research and potential treatments in achondroplasia and other skeletal dysplasias. (n.d.). Retrieved March 17, 2014, from http://www.lpaonline.org/research-and-treatments
Journal of Pediatric Orthopaedics. (n.d.). Retrieved March 19, 2014, from http://journals.lww.com/pedorthopaedics/Abstract/1989/09010/Limb_Lengthening_for_Achondroplasia_Early.2.aspx
Achondroplasia. (n.d.). Retrieved March 19, 2014, from http://www.med.nyu.edu/content?ChunkIID=23862
Learning About Achondroplasia. (n.d.). Retrieved March 17, 2014, from https://www.genome.gov/19517823
"Achondroplasia ." Achondroplasia. Web. 20 Mar. 2014.
/emedicine.medscape.com/article/1258401-overview#a0199>.

Show More
Related

  • Fibrodysplasia Ossificans Progressiva

    1361 Words  | 3 Pages

    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.

    Read More

  • Mendel's Dwarf Sparknotes

    1052 Words  | 3 Pages

    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

    Read More

  • Get Off That Couch And Play Competitive Sports

    1466 Words  | 3 Pages

    A topic that has recently come into great interest in the media is whether or not children and teens should play competitive sports. Some may say that they should because sports can teach valuable life lessons. Others believe the chance of injury is too great. While some children can sustain injuries from sports, studies have shown that children are more likely to injure themselves biking than playing football or any other sport. “Sports do not build character.

    Read More

  • Youth Sports Injury

    588 Words  | 2 Pages

    Kids are playing in a pressure pot full of stress and this is dangerous. They feel over-responsible toward team mates, parents and coaches and in consequence, are playing with chronic pain and even concussions. One-Sport Wonder Kids are deciding by ages 9-10 they want to excel in one sport in order to win a college scholarship.

    Read More

  • Deletion

    1025 Words  | 3 Pages

    A baby was born with low birth weight of 1.8 kg to a 36 yr old father and 32 yr old mother. The proposita is the 6th girl child of the non-consanguineous parents. As can be seen from the pedigree chart shown in figure 2, the mothe...

    Read More

  • Familial Dysautonomia Research Paper

    588 Words  | 2 Pages

    At birth, children with familial dysautonomia are diagnosed by a distinct set of symptoms. (FD Facts) Poor muscle tone and lack of tears are two symptoms that can be detected very early. As they get older they have a hard time maintaining body temperature, they hold their breath for long periods of time and have a delay in speech and walking. The cause of these symptoms is due to a defect IKBKAP gene. Someone with familial dysautonomia has two copies of IKBKAP in each cell, which means a mutation occurred. This mutation disrupts the information in the IKBKAP gene that helps the production of IKAP protein. The IKAP protein is used for brain functions but when the mutation occurs, not enough of the proteins are made for the brain to function properly...

    Read More

  • A look at acromegaly

    596 Words  | 2 Pages

    Acromegaly is a pituitary gland disorder that is an unusual and rare disease that comes from the hypersecretion of growth hormone during adulthood. It is rare in that acromegaly occurs in about 5 cases per million per year (Lugo 2011). Acromegaly if often labeled as a prolonged metabolic condition that is characterized by steady enlargement or elongation of facial bones and extremities (Thibodeau, 2013). This paper will explain the disease and how it affects the body, how one who has the disease might act and how to diagnose the disorder, and how to treat the disorder and ways for prevention of acromegaly.

    Read More

  • Stone Man Syndrome Research Paper

    721 Words  | 2 Pages

    The syndrome is caused because of Genetic mutation that replaces connective tissues (muscles) with bones when someone gets injured instead of getting cured. This results in a new skeletal structure. Unfortunately this syndrome does not have any cure and the patients are advised to always be careful and not to fall or have any kind of traumas. They can’t engage in any sports in order to prevent any injuries. Surgery for removal of extra bones is not an option because removal of bones will lead to ingrowth of more bones. From previous cases it is seen that most of the patients suffering from this condition do not live more than 40 years and they die of respiratory

    Read More

  • Fabry Disease Essay

    886 Words  | 2 Pages

    Fabry disease is a rare hereditary disorder that’s from buildup glycolipids called GL-3 in the body’s cells, tissue, or other organs. The damage to the cells, tissues, or organs can cause a wide range of mild to severe symptoms that can be life threatening. Signs and symptoms’ may be noticed in childhood or adolescence. Many patients are diagnosed in adulthood. The average aged to be diagnosed with Fabry disease is age 29. One or both parents can carry an abnormal gene that’s passed to their children. The abnormal gene is on the X-chromosomes. Females have 2 X-chromosomes one by each parents. Males have one chromosomes inherited from their mother and one Y-chromosome by the father. Males and Female children of an affected female have 50% chance of having the gene. If the father carries one the gene all girl children will inherit the gene and males won’t. There are no known predetermining factors of Fabry disease.

    Read More

  • Prepubescent Strength Training

    3056 Words  | 7 Pages

    There has recently been increasing scrutiny debating the merits of strength training in our youth and more importantly the unsafe and unethical training practices that tend to be utilized in implementing strength training programs in all levels of amateur athletics. These controversies have enabled many people associated in medical and exercise sciences to take a further look at the field of prepubescent athletics and their impact on the developmental patterns of the children involved. The research in the field has provided feedback regarding the physiological, mental and social effects - negative and/or positive - that strength training influences over prepubescent growth and development.

    Read More

  • Bone Diseases

    827 Words  | 2 Pages

    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.

    Read More

  • Understanding Developmental Dysplasia of the Hip

    1777 Words  | 4 Pages

    Developmental dysplasia of the hip (DDH) is a congenital condition (i.e, present at birth) of the hip joint. According to the International Hip Dysplasia Institute (2012), DDH is defined as general instability or looseness of the hip joint. In normal development, the hip joint is created as a ball and socket joint around the time of birth and continues into infancy or childhood. In DDH, the hip socket is shallow and in result, the “ball” of the long bone (i.e, femoral head) slips out of the socket. Many factors are involved in the inheritance of DDH, but the exact causes are not known (Hip Dysplasia Institute, 2012). According to O’ Brien and Solomon (2016), “an infant may be genetically prone to instability of one or both of the hip joints, and stretching of an unstable hip or prolonged time in a position that makes the hip vulnerable may cause dislocation” (p. 201).

    Read More

  • Summary: Should Children Participate In Extreme Sports?

    408 Words  | 1 Pages

    In the article, Should Kids do Extreme Sports?, Tarshis states, “according to the seven X Games sports, extreme athletes suffered about 4 million injuries between 2000 and 2011.” 4 million injuries in an eleven year period? That’s way too many! This proves children should not participate in extreme sports.

    Read More

  • The James Bond Film: The Spy Who Loved Me

    745 Words  | 2 Pages

    Acromegaly syndrome is caused by excess production of growth hormone by the pituitary gland after epiphyseal plate closure.

    Read More

  • Dwarfism

    1008 Words  | 3 Pages

    There are many different types of dwarfism that researchers have confirmed today, but there still are many genes for dwarfism that remain unidentified.The most common of these known causes is achondroplasia, a bone growth disorder.The Little People Online website states that most dwarfs who suffer from achondroplasia are born to “average-size” parents, and that their birth rate is somewhere between onein26,000-40,000www.lpaonline.org).The main characteristics of this form of dwarfism are normal trunk size with short appendages, irregularly large heads wi...

    Read More

More about Genetic Disorder Paper

Open Document