Editing Phocomelia

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'''Phocomelia''' is a congenital condition that involves malformations of human arms and legs which result in a flipper-like appendage.<ref>{{cite journal |last1= Hooper |first1= G. |last2= Tytherleigh-Strong |first2= G. |date= 2003 |title= The Classification of Phocomelia |url= https://www.researchgate.net/publication/10705009 |journal= Journal of Hand Surgery (British and European Volume) |volume= 28B |issue= 3 |pages= 215–217}}</ref><ref name= amj>{{cite journal |last1= Amar |first1= Emmanuelle |date= 2011 |title= Phocomelia: A Worldwide Descriptive Epidemiologic Study in a Large Series of Cases From the International Clearinghouse for Birth Defects Surveillance and Research, and Overview of the Literature |journal= American Journal of Medical Genetics Part C: Seminars in Medical Genetics |volume= 15 |issue= 4 |pages= 305–320|doi= 10.1002/ajmg.c.30320 |pmid= 22002800 |pmc= 4427055 }}</ref>  A prominent cause of phocomelia is the mother being prescribed the use of the drug [[thalidomide scandal|thalidomide during pregnancy]]; however, the causes of most cases are to be determined.<ref name= amj/>

Occurrence in an individual results in various abnormalities to the face, limbs, ears, nose, vessels and many other underdevelopments. Although operations may improve some abnormalities, many are not surgically treatable due to the lack of nerves and other related structures.

The term is from [[Ancient Greek]] φώκη ''phōkē'', "[[seal (animal)]]" + ''-o-'' [[interfix]] + μέλος ''melos'', "limb" + ια ''-ia'' [[suffix]]). Phocomelia is an extremely rare [[congenital disorder]] involving malformation of the limbs ([[dysmelia]]). [[Étienne Geoffroy Saint-Hilaire]] coined the term in 1836.<ref>{{cite news | last       = Zimmer | first      = Carl | author-link = Carl Zimmer | title      = Answers Begin to Emerge on How Thalidomide Caused Defects | url        = https://www.nytimes.com/2010/03/16/science/16limb.html?ref=science | quote      = The word "phocomelia" means seal limb. It describes an extremely rare condition in which babies are born with limbs that look like flippers. | work       = [[New York Times]] | date       = 15 March 2010 | access-date = 26 February 2012}}</ref>

==Signs and symptoms==
[[File:Ears of phocomelia patients.jpg|thumb|Phocomelia manifested as auricular abnormalities]]
[[Image:phocomelia1.jpg|thumb|Eyesight limitation from phocomelia]]
[[File:Phocomelia.jpg|thumb|9-year-old [[Indian people|Indian]] boy with phocomelia affecting both arms and legs, 1928]]
The symptoms of phocomelia syndrome are undeveloped limbs and absent pelvic bones; however, various abnormalities can occur to the limbs and bones.<ref>{{cite journal |last1=Olney |first1=Richard S. |last2=Hoyme |first2=H. Eugene |last3=Roche |first3=Frances |last4=Ferguson |first4=Kevin |last5=Hintz |first5=Susan |last6=Madan |first6=Ashima |title=Limb/pelvis hypoplasia/aplasia with skull defect (Schinzel phocomelia): Distinctive features and prenatal detection |journal=American Journal of Medical Genetics |volume=103 |issue=4 |pages=295–301 |year=2001 |pmid=11746009 |doi=10.1002/ajmg.1560 }}</ref> Usually the upper limbs are not fully formed and sections of the "hands and arms may be missing". Short arm bones, fused fingers, and missing thumbs will often occur. Sometimes hands or fingers will be present but limp due to having no bones or being loosely attached. Legs and feet are also affected similarly to the arms and hands. Individuals with phocomelia will often lack thigh bones, and the hands or feet may be abnormally small or appear as stumps due to their close "attachment to the body".<ref name="nard" />

According to National Organization for Rare Disorders (NORD), individuals carrying phocomelia syndrome will generally show symptoms of growth retardation previous to and after birth. The syndrome can also cause severe mental deficiencies in infants. Infants born with phocomelia will normally have a petite head with "sparse hair" that may appear "silvery-blonde". Hemangioma, the abnormal buildup of blood vessels, will possibly develop around the facial area at birth and the eyes may be set widely apart, a condition known as orbital [[hypertelorism]]. The pigment of the eyes will be a bluish white.<ref name="nard" /> Phocomelia can also cause: an undeveloped nose with slender nostrils, disfigured ears, irregularly petite jaws (a condition known as [[Micrognathism|micrognathia]]), and a cleft lip with cleft palate.<ref>{{cite book | title = Gale Encyclopedia of Genetic Disorders, Part I | chapter = Roberts SC phocomelia | last = Hunt | first = Katherine Susan | year = 2002 | publisher = The Gale Group | location = Detroit}}</ref> According to NORD, severe symptoms of phocomelia include:{{citation needed|date=October 2020}}
* A fissure of the skull and a projecting brain known as [[encephalocele]]
* An accumulation of spinal fluid under the skull also known as [[hydrocephalus]], causing vomiting and migraines
* An abnormally shaped uterus ([[Bicornuate uterus|bicornuate]])
* Inability to clot blood efficiently due to a low amount of platelets running through the blood
* Malformations in the kidney and heart
* Shortened neck
* Abnormalities in the urethra

===Thalidomide syndrome symptoms===
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:<ref name="perri" />
* Palsy disorder of the face
* Ear and eye abnormalities, resulting in limited/complete loss of hearing or sight
* Gastrointestinal and genitourinary tract disorders
* Ingrown genitalia
* Undeveloped/missing lungs
* Distorted digestive tract, heart, kidney
* Hypoplastic or absent bones

The infants that were exposed to thalidomide during development phases had a 40% chance of survival.<ref name="miller" /> The McCredie–McBride hypothesis explains that the limbs of the infants become malformed as a result of the thalidomide harming the neural tissue—simply because the neural tissue has such a large impact on formation and development of the limbs.<ref name="perri">{{cite journal |last1=Perri |first1=Anthony J. |last2=Hsu |first2=Sylvia |title=A review of thalidomide's history and current dermatological applications |journal=Dermatology Online Journal |volume=9 |issue=3 |pages=5 |year=2003 |doi=10.5070/D35FK5W0QV |pmid=12952752 |url=http://dermatology.cdlib.org/93/reviews/thalidomide/hsu.html }}</ref>

==Causes==

===Thalidomide===
{{Main|Thalidomide scandal}}
[[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".<ref name="miller">{{cite journal |last1=Miller |first1=Marylin T. |title=Thalidomide embryopathy: a model for the study of congenital incomitant horizontal strabismus |journal=Transactions of the American Ophthalmological Society |volume=89 |pages=623–74 |year=1991 |pmid=1808819 |pmc=1298636 }}</ref> 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 medication|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.<ref name="miller" />

Research also proves that although phocomelia did exist through the 1940s and 1950s, cases of severe phocomelia multiplied in the 1960s when thalidomide was released in Germany; the direct cause was traced to thalidomide.<ref>[http://www.teratology.org/jfs/Pharmaceutical.html "Pharmaceutical Teratogens"]. Teratology Society—Birth Defects Research. 8 December 2007. {{webarchive |url=https://web.archive.org/web/20100507104931/http://www.teratology.org/jfs/Pharmaceutical.html |date=May 7, 2010 }}</ref> 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.<ref>{{cite book | title = The Oxford Companion to the Body | last = Cuthbert | first = Alan | date = 2001–2003 | publisher = Oxford University Press | url = http://www.answers.com/topic/thalidomide | access-date = 26 February 2012}}</ref>

===Genetic inheritance===
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.<ref name="nard">{{cite web|url=http://www.rarediseases.org/|title=Phocomelia Syndrome|date=11 October 2007|publisher = National Organization for Rare Disorders}}</ref>

A study of [[Roberts syndrome]], a genetic disorder showing similar symptoms to phocomelia, has shed light on the possible causes.<ref>{{cite web|url=http://www.hopkinsmedicine.org/Press_releases/2005/04_11_05.html|title=Fifteen-Year Hunt Uncovers Gene Behind 'Pseudothalidomide' Syndrome|last=Vega|first=Hugo|date=11 April 2005|publisher=Johns Hopkins Medicine|access-date = 10 December 2007|display-authors=etal}}</ref> An individual afflicted with Roberts Syndrome will have chromosome copies that do not connect at the centromeres, making them unable to line up accordingly.<ref>{{cite journal |last1= Horsburgh |first1= Sheri |last2= Kasai |first2= Yumi |last3= Kolomeitz |first3= Elena |last4= Morel |first4= Chantal France |last5= Li |first5= Chumei |last6= Suk-King Goh |first6= Elaine |date= 2009 |title= The Roberts Syndrome/SC Phocomelia Spectrum - A Case Report of an Adult With Review of the Literature |url= https://ern-ithaca.eu/wp-content/uploads/2020/12/Goh_Robertsadults_AJMG2010.pdf |journal= [[American Journal of Medical Genetics]] |volume= 152 |pages= 472=478 |accessdate= 2023-04-25}}</ref> 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.{{citation needed|date=October 2020}}

==Treatment==
[[Prosthesis]] is a synthetic alternative for missing limbs, teeth, and various other body parts. Advances in materials, pigments and manufacturing methods during the twentieth century have rendered artificial limbs lighter in weight and more realistic-looking. Myoelectric prostheses take all their input from the nervous system and muscles at the site of attachment in the form of electric signals.<ref>{{cite journal|last=Hunter|first=James|title=An Externally Powered Prothesis for Unilateral Congenital Amelia|journal=ICIB|year=1976|volume=15|issue=7|pages=1–4|url=http://www.acpoc.org/library/1976_07_001.asp|access-date=20 May 2013}}</ref>

Children born with phocomelia are recommended to have a prosthetic mitten fitted to get used to the sensation of wearing an aid early on; typically a hook is added around the age of two years until the necessary tissues, bone structures, proprioception and motor coordination have developed to permit use of a myoelectric prosthetic limb.{{citation needed|date=October 2020}}

==Notable cases==
* [[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.<ref name= Aim>{{cite web| url= https://www.aimforthestars.com.au/recipient/ame-barnbrook |first= Ame| last= Barnbrook| website= aimforthestars.com.au| title= Ame Barnbrook: 2011 Aim for the Stars Scholarship winner | publisher= Aim for the Stars Foundation | date= 2011| access-date= June 26, 2017}}</ref> 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.<ref name= Aim /> She sails a [[SKUD 18|SKUD18]]<ref>[http://www.skud.org/ SKUD18] at skud.org</ref> 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 Marshall Craig|William Craig]], and exhibited at the [[Royal Academy of Arts|Royal Academy]]. Biffen was commissioned to paint [[portrait miniatures|miniatures]] of the [[Royal Family]], and [[Queen Victoria]] later awarded her pension.
* [[Eli Bowen]] (1844 - 1924), who made his living performing in [[sideshow]]s.<ref>[http://www.19thcenturyphotos.com/Eli-Bowen-and-family-124816.htm Photo of Eli Bowen and Family] at 19thcenturyphotos.com</ref>
* [[Mat Fraser (actor)|Mat Fraser]] (1962 - ) was born with phocomelia due to his mother taking thalidomide while she was pregnant.<ref>{{cite web| url= http://www.bustle.com/articles/44086-which-ahs-freak-show-freaks-are-real-and-which-ones-are-modified-for-tv| title= Which 'AHS: Freak Show' "Freaks" Are Real And Which Ones Are Modified For TV? | website= Bustle.com| first= Lindsey |last= Kupfer| date= October 15, 2014 | access-date= June 26, 2017}}</ref> 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]] (~1996 - 2016) 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.<ref>[https://www.telegraph.co.uk/news/2016/12/28/limbless-teen-lived-plastic-bowl-died-christmas-day/ Limbless teen who lived in plastic bowl died on Christmas Day] at Telegraph.co.uk</ref>
* [[Alison Lapper]] (1965 - ) was born in England 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.<ref name="My Lapper">{{cite web | url        = http://www.mymultiplesclerosis.co.uk/misc/alisonlapper.html | archive-url = https://web.archive.org/web/20050728124639/http://www.mymultiplesclerosis.co.uk/misc/alisonlapper.html | url-status = usurped | archive-date = July 28, 2005 | title      = Alison Lapper: The Woman with the Remarkable Body | last       = Walker | first      = Stephen | date       = 24 November 2007 | work       = Multiple Sclerosis - A Personal Account | access-date = 10 December 2007}}</ref> Lapper produces cards and calendars for The Mouth and Foot Painters' Association. She does not wear prosthetic limbs.<ref name="My Lapper" />
* [[Hee Ah Lee]] (1985 - ), a South Korean pianist who has two fingers on each hand.
* [[Thomas Quasthoff]] (1959 - ), a German Lieder and opera singer.
* [[Enos Stutsman]] (1826 - 1874), Pioneer settler of North Dakota. Namesake of [[Stutsman County]].
* [[Ronan Tynan]] (1964 - ) was born in Ireland with phocomelia.<ref>{{cite book |last=Tynan |first= Ronan |date= 2002 |title= Halfway Home: My Life 'til Now |location= [[New York, New York]] |publisher= Schribner UK |page= 16 |isbn= 0-7432-2291-1}}</ref> He became a track and field athlete, competing in the [[1984 Summer Paralympics|1984]] and [[1988 Summer Paralympics]].<ref>{{cite web |url= https://www.paralympic.org/ronan-tynan |title= Ronan Tynan |website= paralympic.org |publisher= [[International Paralympic Committee]] |accessdate= 2023-03-22}}</ref> Tynan went on to a career as a physician, and later, a singer.
* [[Sheetal Devi]] (2007 - ), born in India, is the first and only armless [[Para-archery_classification|para-archer]] to reach world number one in compound women's para-archery ranking.<ref>{{Cite web |title=Sheetal Devi {{!}} World Archery |url=https://www.worldarchery.sport/profile/48250/sheetal-devi/biography |archive-url=https://web.archive.org/web/20231207095706/https://www.worldarchery.sport/profile/48250/sheetal-devi/biography |archive-date=7 December 2023 |access-date=2023-12-07 |website=www.worldarchery.sport |language=en}}</ref>

==References==
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{{Medical resources
|  ICD10          = {{ICD10|Q|73|1|q|65}}
|  ICD9           = {{ICD9|755.2}}-{{ICD9|755.4}}
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|  DiseasesDB     = 10020
|  MeshID         = D004480
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{{commons category|Phocomelia}}
{{Congenital malformations and deformations of musculoskeletal system}}

[[Category:Phocomelia| ]]
[[Category:Congenital disorders of musculoskeletal system]]
[[Category:1830s neologisms]]