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((other uses|Amelia (disambiguation)))
((refimprove|date=March 2014))
((Infobox medical condition (new)
| name          = Amelia
| image         = Tracy Lee Barrell during the medal ceremony of 1992 Paralympic Games.jpg
| caption       = Amelia affecting both legs ([[Tracy Barrell]] during Paralympics)
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| field         = [[Medical genetics]]
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))

'''Amelia''' is the [[dysmelia|birth defect]] of lacking one or more [[Limb (anatomy)|limb]]s.<ref>((Cite web |last1=Bowen |first1=Richard E. |last2=Otsuka |first2=Norman Y. |date=2020 |title=The Child with a Limb Deficiency |url=https://www.rchsd.org/documents/2020/12/chapter-30-lowell-and-winters-pediatric-orthopedics-7th-ed-19.pdf/ |access-date=2023-03-20 |website=rchsd.org |language=en-US))</ref><ref>((Cite web |last=CDC |date=2021-03-18 |title=Amelia |url=https://www.cdc.gov/ncbddd/birthdefects/surveillancemanual/quick-reference-handbook/amelia.html |access-date=2023-03-20 |website=Centers for Disease Control and Prevention |language=en-us))</ref> The term may be modified to indicate the number of legs or arms missing at birth, such as tetra-amelia for the absence of all four limbs. The term is from [[Greek language|Greek]] ((Lang|grc|((Script|Greek|ἀ-)))) 'lack of' plus ((Lang|grc|((Script|Greek|μέλος)))) (plural: ((Lang|grc|((Script|Greek|μέλεα)))) or ((Lang|grc|((Script|Greek|μέλη))))) 'limb'.

==Symptoms==
The diagnosis of amelia syndrome is established clinically and can be made on routine prenatal ultrasonography. [[WNT3]] is the only gene known to be associated with tetra-amelia syndrome. Molecular [[genetic testing]] on a clinical basis can be used to diagnose the incidence of the syndrome. The mutation detection frequency is unknown as only a limited number of families have been studied. Affected infants are often stillborn or die shortly after birth.<ref>((Cite book | chapter-url=https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=tetra-amelia |title = GeneReviews®|chapter = Tetra-Amelia Syndrome|publisher = University of Washington, Seattle|year = 1993| pmid=20301453 | last1=Adam | first1=M. P. | last2=Mirzaa | first2=G. M. | last3=Pagon | first3=R. A. | last4=Wallace | first4=S. E. | author5=Bean LJH | last6=Gripp | first6=K. W. | last7=Amemiya | first7=A. | last8=Niemann | first8=S. ))</ref>

===Description===
[[File:Gould Pyle 110.jpg|thumb|Amelia of the arms in a [[Hindu]] woman]]
Amelia may be present as an isolated defect, but it is often associated with major malformations in other organ systems. These frequently include cleft lip and/or palate, body wall defects, malformed head, and defects of the neural tube, kidneys, and diaphragm. Facial clefts may be accompanied by other facial anomalies such as abnormally small jaw, and missing ears or nose. The body wall defects allow internal organs to protrude through the abdomen. Head malformations may be minor to severe with a near absence of the brain. The diaphragm may be herniated or absent and one or both kidneys may be small or absent.

==Causes==
Between 24 and 36 days after fertilization, development of limb(s) may be impeded. This may eventually lead to complete or partial absence of one or more than one limbs.<ref name="Encyclopedia.com 2021">((cite web | title=Amelia | website=Encyclopedia.com | date=2021-03-04 | url=https://www.encyclopedia.com/places/united-states-and-canada/us-political-geography/amelia | access-date=2021-03-09))</ref> [[Tetra-amelia]] syndrome appears to have an autosomal recessive pattern of inheritance – that is, the parents of an individual with tetra-amelia syndrome each carry one copy of the mutated gene, but do not show signs and symptoms of the condition.<ref>((Cite web | url=http://ghr.nlm.nih.gov/condition/tetra-amelia-syndrome | title=Tetra-amelia syndrome))</ref>

In some cases, amelia may be attributed to health complications during the early stages of pregnancy, including infection, failed abortion or complications associated with removal of an IUD after pregnancy, or use of [[teratology|teratogenic]] drugs, such as [[thalidomide]].<ref name="KAN">((cite journal |vauthors=KAN Y, SEKINE H |date=November 1963| title = Case of Total amelia Thought to be due to Thalidomide| journal =Nippon Sanka Fujinka Gakkai Zasshi.  | volume =15 | pages =1267–1274|pmid=14096734 ))</ref><ref>((Cite web |last=CDC |date=2021-03-18 |title=Amelia |url=https://www.cdc.gov/ncbddd/birthdefects/surveillancemanual/quick-reference-handbook/amelia.html |access-date=2023-03-20 |website=Centers for Disease Control and Prevention |language=en-us))</ref>

==Management==
A prosthesis can be given to compensate for the missing limb(s).

==See also==
* [[Amniotic band constriction]]
* [[Dysmelia]]
* [[Hemimelia]]
* [[Phocomelia]]
* [[Thalidomide]]

==References==
((Reflist))

==External links==
((Medical resources
|   ICD10          = ((ICD10|Q|73|0|q|65)) 
|   ICD9           = ((ICD9|755.21)), ((ICD9|755.31)), ((ICD9|755.4)) 
|   ICDO           = 
|   OMIM           = 
|   MedlinePlus    = 
|   eMedicineSubj  = 
|   eMedicineTopic = 
|   DiseasesDB     = 
|Orphanet=294925))
((Congenital malformations and deformations of musculoskeletal system))

((DEFAULTSORT:Amelia (Birth Defect)))
[[Category:Congenital disorders of musculoskeletal system]]
[[Category:Congenital amputations]]

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