Congenital amputation

The exact cause of congenital amputation is unknown and can result from a number of causes. However, most cases show that the first three months in a pregnancy are when most birth defects occur because that is when the organs of the fetus are beginning to form. One common cause is amniotic band syndrome, which occurs when the inner fetal membrane (amnion) ruptures without injury to the outer membrane (chorion). Fibrous bands from the ruptured amnion float in the amniotic fluid and can get entangled with the fetus, thus reducing blood supply to the developing limbs to such an extent that the limbs can become strangulated; the tissues die and are absorbed into the amniotic fluid. A baby with congenital amputation can be missing a portion of a limb or the entire limb, which results in the complete absence of a limb beyond a certain point where only a stump is left is known as transverse deficiency or amelia. When a specific part is missing, it is referred to as longitudinal deficiency. Finally, phocomelia occurs when only a mid-portion of a limb is missing; for example when the hands or feet are directly attached to the trunk of the body.

Amnion ruptures can be caused by:{{citation needed|date=October 2020}}

• teratogenic drugs (e.g. thalidomide, which causes phocomelia), or environmental chemicals
• ionizing radiation (atomic weapons, radioiodine, radiation therapy)
• infections
• metabolic imbalance
• trauma

Congenital amputation is the least common reason for amputation, but a study published in BMC Musculoskelet Disorders found that 21.1 in 10,000 babies were born with a missing or deformed limb between 1981 and 2010 in the Netherlands,{{cite journal | vauthors = Vasluian E, van der Sluis CK, van Essen AJ, Bergman JE, Dijkstra PU, Reinders-Messelink HA, de Walle HE | title = Birth prevalence for congenital limb defects in the northern Netherlands: a 30-year population-based study | journal = BMC Musculoskeletal Disorders | volume = 14 | pages = 323 | date = November 2013 | pmid = 24237863 | pmc = 3840683 | doi = 10.1186/1471-2474-14-323 | doi-access = free }} and the CDC estimates that 4 in 10,000 babies are born in the United States with upper limb reductions and 2 in 10,000 with lower limb reductions.{{Cite news|url=https://www.cdc.gov/ncbddd/birthdefects/ul-limbreductiondefects.html|title=Upper and Lower Limb Reduction Defects |date=2018-04-20|work=Centers for Disease Control and Prevention|access-date=2018-09-12 }} During certain periods in history, an increase in congenital amputations has been documented. One example includes the thalidomide tragedy that occurred in the 1960s when pregnant mothers were given a tranquilizer that contained the harmful drug, which produced an increase in children born without limbs.{{citation needed|date=October 2020}}

For most cases the diagnosis for congenital amputation is not made until the infant is born. One procedure that is helpful in determining this condition in an infant is an ultrasound examination of a fetus when still in the mother's abdomen as it can reveal the absence of a limb. However, since ultrasounds are routine they may not pick up all the signs of some of the more subtle birth defects.{{citation needed|date=October 2020}}

The most popular method of treatment for congenital amputation is having the child be fit for a prosthesis which can lead to normal development, so the muscles don't atrophy. If there is congenital amputation of the fingers, plastic surgery can be performed by using the big toe or second toes in place of the missing fingers of the hand.{{Citation needed|date=January 2015}}

In rare cases of amniotic banding syndrome, if diagnosed in utero, fetal surgery may be considered to save a limb which is in danger of amputation.{{citation needed|date=October 2020}}

• Hannah Aspden, American swimmer, born missing her left leg at the hip.
• Stephanie Dixon, Canadian swimmer, born missing her right leg and hip.
• Mitchell Gourley, an Australian Paralympic alpine skier, was born missing his left arm from just below his elbow; he has a few inches of forearm.{{cite web|url=https://www.youtube.com/watch?v=auiNRDsmREE&list=FLtZriBGGIgpJsxN9tS3K0gw|title=Mitchell Gourley|publisher=YouTube 2013|year=2013|access-date=13 March 2022}}
• Kevin Laue, a former basketball player, was born missing his left arm just below his elbow.Adam Himmelsbach, [https://www.nytimes.com/2008/12/27/sports/ncaabasketball/27forkunion.html Prospect Provides Inspiration With What He Doesn't Have], The New York Times, December 26, 2008
• Kyle Maynard was born missing both legs above the knee, and both arms above the elbow.[https://wayback.archive-it.org/all/20090427103955/http://www.mmaweekly.com/absolutenm/templates/dailynews.asp?articleid=8649 "Kyle Maynard, Congenital Amputee, To Fight], MMA Weekly, 25 April 2009. From a press release by Undisputed Productions.
• Nick Newell is a mixed martial artist who was born missing his left arm just below the elbow. He has a short stump of his forearm.{{cite web | url=https://www.garethadavies.com/2019/09/01/notorious-nick-newell-is-the-man-to-thrust-disability-wrestling-into-the-spotlight/ | title='Notorious' Nick Newell is the man to thrust Para-wrestling into the spotlight | work=Gareth A Davies| date=2019-01-09 | accessdate=March 13, 2022 | author=Davies, Gareth}}
• Anthony Robles, a former wrestler, was born missing his right leg all the way up to his hip.{{cite web | url=http://deadspin.com/the-one-legged-wrestler-who-conquered-his-sport-then-l-452888181? | title=The One-Legged Wrestler Who Conquered His Sport, Then Left It Behind | work=Deadspin | date=2013-03-18 | accessdate=March 13, 2022 | author=Merrill, David}}

• Jessica Cox is the first licensed armless pilot in aviation history and was born without both arms.{{cite news | url=https://www.bbc.com/news/av/magazine-21377627 | title=Armless pilot proves sky's the limit | work=BBC News }}
• Felix Klieser is a professional French horn player from Germany, who was born without arms and plays the instrument using a stand and his left foot. {{cite news | url=https://www.bbc.com/news/blogs-ouch-28541455 | title=The man who plays French horn with his toes | work=BBC News }}

• congenital absence
• Tetra-amelia syndrome

{{Reflist}}

{{refbegin}}

• {{cite journal | vauthors = Gabos PG | title = Modified technique for the surgical treatment of congenital constriction bands of the arms and legs of infants and children | journal = Orthopedics | volume = 29 | issue = 5 | pages = 401–4 | date = May 2006 | doi = 10.3928/01477447-20060501-10 | pmid = 16729738 }}
• {{cite journal | vauthors = Walter JH, Goss LR, Lazzara AT | title = Amniotic band syndrome | journal = The Journal of Foot and Ankle Surgery | volume = 37 | issue = 4 | pages = 325–33 | date = July–August 1998 | pmid = 9710786 | doi = 10.1016/s1067-2516(98)80070-7}}
• {{cite journal | vauthors = Light TR, Ogden JA | title = Congenital constriction band syndrome. Pathophysiology and treatment | journal = The Yale Journal of Biology and Medicine | volume = 66 | issue = 3 | pages = 143–55 | date = May–June 1993 | pmid = 8209551 | pmc=2588858}}

{{refend}}

• {{cite web | title = Congenital amputation | url = http://medical-dictionary.thefreedictionary.com/congenital+amputation | work = The Free Dictionary}}

{{Congenital malformations and deformations of musculoskeletal system}}

Category:Congenital disorders of musculoskeletal system

Category:Types of amputation

Category:Congenital amputations

Category:Causes of amputation