Фокомелия және талидомид синдромы: себептері мен салдары

Phocomelia is a congenital condition that involves malformations of human arms and legs which results in a flipper like appendage. A prominent cause of phocomelia is the mother's use of the drug thalidomide during pregnancy; however, the causes of most cases are to be determined.

When an individual is born with phocomelia due to drugs or pharmaceuticals, it is known as thalidomide syndrome. The symptoms of thalidomide syndrome are defined by absent or shortened limbs, causing flipper hands and feet. According to Anthony J Perri III and Sylvia Hsu they can additionally receive:

Thalidomide was released onto the market in 1958 in West Germany under the name Contergan. Primarily prescribed as a sedative or hypnotic, thalidomide also claimed to cure "anxiety, insomnia, gastritis, and tension". Afterwards it was used against nausea and to alleviate morning sickness in pregnant women. Thalidomide became an over the counter drug in Germany around 1960, i. e. it could be bought without a prescription. Shortly after the drug was sold, in Germany between 5,000 and 7,000 infants were born with phocomelia. Only 40% of these children survived. The statistic was given that "50 percent of the mothers with deformed children had taken thalidomide during the first trimester of pregnancy." Throughout Europe, Australia, and the United States, 10,000 cases were reported of infants with phocomelia; only 50% of the 10,000 survived. Thalidomide became effectively linked to death or severe disabilities among babies. Those subjected to thalidomide while in the womb experienced limb deficiencies in that the long limbs either were not developed or presented themselves as stumps. Other effects included deformed eyes, hearts, alimentary and urinary tracts, blindness and deafness.

According to the National Organization for Rare Disorders (NORD), when phocomelia is transmitted (in its familial genetic form) it is seen as an autosomal recessive trait and the mutation is linked to chromosome 8. A study of Roberts syndrome, a genetic disorder showing similar symptoms to phocomelia, has shed light on the possible causes. An individual afflicted with Roberts Syndrome will have chromosome copies that do not connect at the centromeres, making them unable to line up accordingly. As a result, the newly made cells contain an excess or reduced number of chromosomes. In both Roberts syndrome and phocomelia the cells cease to develop, or die, preventing proper development of the limbs, eyes, brain, palate, or other structures.

Prosthesis is a synthetic alternative for missing limbs, teeth, and various other body parts. Advances in prosthetic limbs have increased greatly during the twentieth century. The use of new materials such as modern plastics, complex procedures and better pigments have created lighter in weight and more realistic looking artificial limbs. With the advancement of myoelectric prosthetic limbs, patients are able to move their limbs without the use of cords or other devices. The myoelectric limbs can detect electric signals from the nervous system and muscles. They were first used on adults, but now they are being fitted to children. Patients that receive a loss of limbs due to phocomelia are typically treated with prosthetics. Infants at the age of six months are recommended to have a prosthetic mitten fitted, enabling them to get used to the prosthesis. A hook will be added when the child reaches the age of two years. Eventually the patient may receive a myoelectric prosthetic limb. Patients are treated in this way due to the lack of understanding at a young age and the absence of necessary tissues and bones to hold the prosthetic limb.

Matthias Buchinger (1674 1740) was born without hands or legs and was an artist and performer who travelled across Northern Europe. Despite his handicap Buchinger was an incredibly accomplished micro engraver, magician, marksman and musician. He was married 4 times and had 14 children. Louis Joseph César Ducornet, (1806 – 1856) was a French painter who painted with his foot. He is known primarily for biblical and historical scenes, as well as portraits. Ame Barnbrook was born without arms and only the lower half of her left leg, and three toes. She has a rarer form of phocomelia, meaning all of her limbs are affected. She graduated from the University of Wollongong with a Bachelor of Creative Arts. Barnbrook plays the trumpet with her foot and is a competitive sailor. at world championship level. She did not qualify for the 2012 Paralympic Games in London, but she trained for the 2016 Paralympic Games in Rio de Janeiro. Sarah Biffen (c. 1784 – 1850), was an English painter born without arms and only vestigial legs. She learnt to paint by mouth, was taught by William Craig, and exhibited at the Royal Academy. Biffen was commissioned to paint miniatures of the Royal Family, and Queen Victoria later awarded her pension. Eli Bowen, who made his living performing in sideshows. Mat Fraser was born with phocomelia due to his mother taking thalidomide while she was pregnant. He is known as the drummer of rock bands including Fear of Sex, The Reasonable Strollers, Joyride, The Grateful Dub, and Living in Texas. He is also an actor and performing artist. Rahma Haruna was born in Nigeria with severe phocomelia. She had no limbs, except for a partially formed right hand that was attached to her axilla. Rahma's story came out when a local journalist saw her on the street with her brother, after which the story was shared widely on social media. She died at the age of 19, on 25 December 2016. Hee Ah Lee, a pianist who has two fingers on each hand. Alison Lapper was born with phocomelia. She is arm deficient and has shortened bones and legs. Lapper graduated from Brighton University in 1994, established herself as a visual artist, and in 2000 gave birth to a son, Parys. Lapper produces cards and calendars for The Mouth and Foot Painters' Association. She does not wear prosthetic limbs. He became a track and field athlete, competing in the 1984 and 1988 Summer Paralympics. Tynan went on to a career as a physician, and later, a singer. Nick Vujicic, evangelist, motivational speaker, author, and director of Life Without Limbs. Sheetal Devi (born 2007), first and only armless para archer to reach world number one in compound women's para archery ranking.