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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.
230:
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
209:
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.
590:
243:
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.
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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
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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.
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181:. 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
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Adam, M. P.; Mirzaa, G. M.; Pagon, R. A.; Wallace, S. E.; Bean LJH; Gripp, K. W.; Amemiya, A.; Niemann, S. (1993).
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The diagnosis of amelia syndrome is established clinically and can be made on routine prenatal ultrasonography.
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KAN Y, SEKINE H (November 1963). "Case of Total amelia
Thought to be due to Thalidomide".
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is the only gene known to be associated with tetra-amelia syndrome. Molecular
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A prosthesis can be given to compensate for the missing limb(s).
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Failure of limb(s) to develop during embryonic growth
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56:. Unsourced material may be challenged and removed.
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1273:Congenital disorders of musculoskeletal system
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313:Bowen, Richard E.; Otsuka, Norman Y. (2020).
312:
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462:Centers for Disease Control and Prevention
344:Centers for Disease Control and Prevention
139:
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116:Learn how and when to remove this message
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371:. University of Washington, Seattle.
1112:Greig cephalopolysyndactyly syndrome
54:adding citations to reliable sources
25:
455:
337:
13:
602:malformations and deformations of
431:Nippon Sanka Fujinka Gakkai Zasshi
422:
315:"The Child with a Limb Deficiency"
14:
1289:
478:
30:
785:Congenital patellar dislocation
664:Wallis–Zieff–Goldblatt syndrome
41:needs additional citations for
449:
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213:
1:
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189: 'lack of' and
148:Amelia affecting both legs (
7:
1071:Oto-palato-digital syndrome
1066:Hallermann–Streiff syndrome
790:Congenital knee dislocation
608:musculoskeletal abnormality
267:
196:
10:
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1102:Craniodiaphyseal dysplasia
274:Amniotic band constriction
65:"Amelia" birth defect
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1076:Treacher Collins syndrome
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927:reduction deficits / limb
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901:Cenani–Lenz syndactylism
654:Cleidocranial dysostosis
222:Amelia of the arms in a
1048:Craniofacial dysostosis
416:"Tetra-amelia syndrome"
365:"Tetra-Amelia Syndrome"
177:of lacking one or more
21:Amelia (disambiguation)
1278:Congenital amputations
604:musculoskeletal system
227:
1156:Klippel–Feil syndrome
221:
1166:Spina bifida occulta
682:Madelung's deformity
659:Sprengel's deformity
50:improve this article
19:For other uses, see
984:RAPADILINO syndrome
152:during Paralympics)
846:Rocker bottom foot
543:External resources
456:CDC (2021-03-18).
338:CDC (2021-03-18).
228:
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1181:Thoracic skeleton
1161:Spondylolisthesis
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859:
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128:Medical condition
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118:
100:
1285:
1228:Pectus carinatum
1223:Pectus excavatum
1186:
1185:
1144:Spinal curvature
1136:Vertebral column
1056:Crouzon syndrome
1020:Craniosynostosis
1016:
1015:
1007:
1006:
872:fingers and toes
868:
867:
780:Discoid meniscus
737:Upington disease
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163:Medical genetics
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1244:Poland syndrome
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979:Larsen syndrome
967:multiple joints
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775:Genu recurvatum
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728:Hip dislocation
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1107:Dolichocephaly
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1038:Trigonocephaly
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896:Arachnodactyly
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800:foot deformity
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479:External links
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1171:Sacralization
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1117:Plagiocephaly
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1061:Hypertelorism
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1028:Scaphocephaly
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911:Brachydactyly
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864:Either / both
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732:Hip dysplasia
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437:: 1267–1274.
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183:Ancient Greek
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150:Tracy Barrell
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67: –
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61:Find sources:
55:
51:
45:
44:
39:This article
37:
33:
28:
27:
22:
1092:Macrocephaly
950:
938:
934:Acheiropodia
906:Ectrodactyly
826:
807:
692:Oligodactyly
687:Clinodactyly
616:Appendicular
550:
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465:. Retrieved
461:
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399:. Retrieved
397:. 2021-03-04
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369:GeneReviews®
368:
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347:. Retrieved
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322:. Retrieved
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246:
241:Tetra-amelia
238:
229:
200:
190:
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175:birth defect
170:
169:
112:
103:
93:
86:
79:
72:
60:
48:Please help
43:verification
40:
1122:Saddle nose
889:Webbed toes
880:Polydactyly
765:Genu valgum
697:Polydactyly
294:Thalidomide
254:thalidomide
250:teratogenic
214:Description
1267:Categories
1097:Platybasia
1033:Oxycephaly
946:Phocomelia
940:Ectromelia
916:Stub thumb
884:Syndactyly
851:Hammer toe
820:Pigeon toe
770:Genu varum
742:Coxa valga
600:Congenital
467:2023-03-20
401:2021-03-09
349:2023-03-20
324:2023-03-20
300:References
289:Phocomelia
260:Management
106:March 2014
76:newspapers
1149:Scoliosis
956:Hemimelia
841:Pes cavus
834:Flat feet
815:Club foot
747:Coxa vara
319:rchsd.org
284:Hemimelia
158:Specialty
1199:Cervical
646:shoulder
642:clavicle
624:dysmelia
552:Orphanet
458:"Amelia"
443:14096734
391:"Amelia"
377:20301453
340:"Amelia"
279:Dysmelia
268:See also
197:Symptoms
1214:sternum
173:is the
90:scholar
1237:other:
951:Amelia
828:valgus
557:294925
529:755.31
525:755.21
441:
375:
235:Causes
171:Amelia
134:Amelia
92:
85:
78:
71:
63:
1204:Bifid
1085:other
1002:Axial
809:varus
533:755.4
510:Q73.0
226:woman
224:Hindu
191:ÎĽÎλος
185:
179:limbs
97:JSTOR
83:books
1190:ribs
757:knee
633:Arms
620:limb
520:9-CM
439:PMID
373:PMID
203:WNT3
69:news
720:hip
711:Leg
516:ICD
501:ICD
52:by
1269::
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555::
531:,
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187:ἀ-
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113:(
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94:·
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23:.
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