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Amelia

MedGen UID:
8014
Concept ID:
C0002447
Congenital Abnormality
Synonyms: Congenital absence of limb; Congenital complete absence of limb; isolated amelia; non-syndromic amelia; nonsyndromic amelia
SNOMED CT: Amelia (62588002); Congenital absence of limb (62588002); Congenital complete absence of limb (62588002)
 
HPO: HP:0009827
Monarch Initiative: MONDO:0017419
Orphanet: ORPHA294925

Definition

Congenital absence (aplasia) of one or more limbs. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAmelia
Follow this link to review classifications for Amelia in Orphanet.

Conditions with this feature

Autosomal recessive amelia
MedGen UID:
321955
Concept ID:
C1832432
Disease or Syndrome
Posterior amelia with pelvic and pulmonary hypoplasia syndrome (PAPPAS) is characterized by absent lower limbs, severely hypoplastic or absent pelvic bones, and hypoplasia of the sacrum, as well as hypoplasia of the lungs with pulmonary segmentation defect. Ambiguous genitalia have also been observed (Kariminejad et al., 2019). Heterozygous mutation in the TBX4 gene causes ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension (ICPPS; 147891).
Amelia cleft lip palate hydrocephalus iris coloboma
MedGen UID:
321957
Concept ID:
C1832434
Disease or Syndrome
Brachial amelia, cleft lip, and holoprosencephaly (ACLH) is a severe multiple congenital anomaly disorder characterized by brachial amelia, cleft lip, and forebrain defects consistent with holoprosencephaly. Although the disorder is rarely reported, the features are consistent enough to constitute a distinct entity (summary by Kariminejad et al., 2009).
Diaphragmatic defect-limb deficiency-skull defect syndrome
MedGen UID:
371377
Concept ID:
C1832668
Disease or Syndrome
Diaphragmatic defect-limb deficiency-skull defect syndrome is characterized by the association of classical diaphragmatic hernia (Bochdalek type) with severe lung hypoplasia, and variable associated malformations.
Amelia and terminal transverse hemimelia
MedGen UID:
400186
Concept ID:
C1863014
Disease or Syndrome
Tetraamelia syndrome 2
MedGen UID:
1648284
Concept ID:
C4747923
Disease or Syndrome
Tetraamelia syndrome-2 (TETAMS2) is characterized by rudimentary appendages or complete absence of the limbs, usually symmetric, as well as bilateral agenesis of the lungs. There are abnormalities of the pulmonary vasculature and dysmorphic features, including bilateral cleft lip/palate, ankyloglossia, mandibular hypoplasia, microretrognathia, and labioscrotal fold aplasia (Szenker-Ravi et al., 2018). For a discussion of genetic heterogeneity of TETAMS, see 273395.

Professional guidelines

PubMed

Goldberg AM
Pediatrics 2020 Aug;146(Suppl 1):S48-S53. doi: 10.1542/peds.2020-0818J. PMID: 32737232
Brooks D, Asta K, Sturza J, Kebede B, Bekele D, Nigatu B, Hewison J, Quinonez SC
Prenat Diagn 2019 Jul;39(8):595-602. Epub 2019 Jun 18 doi: 10.1002/pd.5472. PMID: 31063215
Oncology (Williston Park) 2004 Dec;18(14 Suppl 14):7-64. PMID: 15685826

Recent clinical studies

Etiology

Brambilla I, Delle Cave F, Guarracino C, De Filippo M, Votto M, Licari A, Pistone C, Tondina E
Acta Biomed 2022 Jun 6;93(S3):e2022195. doi: 10.23750/abm.v93iS3.13075. PMID: 35666114Free PMC Article
Taplitz RA, Kennedy EB, Bow EJ, Crews J, Gleason C, Hawley DK, Langston AA, Nastoupil LJ, Rajotte M, Rolston KV, Strasfeld L, Flowers CR
J Clin Oncol 2018 Oct 20;36(30):3043-3054. Epub 2018 Sep 4 doi: 10.1200/JCO.18.00374. PMID: 30179565
Taplitz RA, Kennedy EB, Bow EJ, Crews J, Gleason C, Hawley DK, Langston AA, Nastoupil LJ, Rajotte M, Rolston K, Strasfeld L, Flowers CR
J Clin Oncol 2018 May 10;36(14):1443-1453. Epub 2018 Feb 20 doi: 10.1200/JCO.2017.77.6211. PMID: 29461916
Gulliver A, Griffiths KM, Christensen H
BMC Psychiatry 2010 Dec 30;10:113. doi: 10.1186/1471-244X-10-113. PMID: 21192795Free PMC Article
Aldao A, Nolen-Hoeksema S, Schweizer S
Clin Psychol Rev 2010 Mar;30(2):217-37. Epub 2009 Nov 20 doi: 10.1016/j.cpr.2009.11.004. PMID: 20015584

Diagnosis

Rodrigues I, Estêvão Gomes R, Coutinho LM, Rego MT, Machado F, Morais A, Novais Bastos H
Eur Respir Rev 2022 Dec 31;31(166) Epub 2022 Oct 5 doi: 10.1183/16000617.0280-2021. PMID: 36198419Free PMC Article
Zanetti A, D'Avanzo F, AlSayed M, Brusius-Facchin AC, Chien YH, Giugliani R, Izzo E, Kasper DC, Lin HY, Lin SP, Pollard L, Singh A, Tonin R, Wood T, Morrone A, Tomanin R
Hum Mutat 2021 Nov;42(11):1384-1398. Epub 2021 Aug 23 doi: 10.1002/humu.24270. PMID: 34387910Free PMC Article
Utarini A, Indriani C, Ahmad RA, Tantowijoyo W, Arguni E, Ansari MR, Supriyati E, Wardana DS, Meitika Y, Ernesia I, Nurhayati I, Prabowo E, Andari B, Green BR, Hodgson L, Cutcher Z, Rancès E, Ryan PA, O'Neill SL, Dufault SM, Tanamas SK, Jewell NP, Anders KL, Simmons CP; AWED Study Group
N Engl J Med 2021 Jun 10;384(23):2177-2186. doi: 10.1056/NEJMoa2030243. PMID: 34107180Free PMC Article
Anderson A, Campo A, Fulton E, Corwin A, Jerome WG 3rd, O'Connor MS
Redox Biol 2020 Jan;29:101380. Epub 2019 Nov 14 doi: 10.1016/j.redox.2019.101380. PMID: 31926618Free PMC Article
Williamson A, Hoggart B
J Clin Nurs 2005 Aug;14(7):798-804. doi: 10.1111/j.1365-2702.2005.01121.x. PMID: 16000093

Therapy

Rodrigues I, Estêvão Gomes R, Coutinho LM, Rego MT, Machado F, Morais A, Novais Bastos H
Eur Respir Rev 2022 Dec 31;31(166) Epub 2022 Oct 5 doi: 10.1183/16000617.0280-2021. PMID: 36198419Free PMC Article
Utarini A, Indriani C, Ahmad RA, Tantowijoyo W, Arguni E, Ansari MR, Supriyati E, Wardana DS, Meitika Y, Ernesia I, Nurhayati I, Prabowo E, Andari B, Green BR, Hodgson L, Cutcher Z, Rancès E, Ryan PA, O'Neill SL, Dufault SM, Tanamas SK, Jewell NP, Anders KL, Simmons CP; AWED Study Group
N Engl J Med 2021 Jun 10;384(23):2177-2186. doi: 10.1056/NEJMoa2030243. PMID: 34107180Free PMC Article
Watkins B, Qayed M, McCracken C, Bratrude B, Betz K, Suessmuth Y, Yu A, Sinclair S, Furlan S, Bosinger S, Tkachev V, Rhodes J, Tumlin AG, Narayan A, Cribbin K, Gillespie S, Gooley TA, Pasquini MC, Hebert K, Kapoor U, Rogatko A, Tighiouart M, Kim S, Bresee C, Choi SW, Davis J, Duncan C, Giller R, Grimley M, Harris AC, Jacobsohn D, Lalefar N, Norkin M, Farhadfar N, Pulsipher MA, Shenoy S, Petrovic A, Schultz KR, Yanik GA, Waller EK, Levine JE, Ferrara JL, Blazar BR, Langston A, Horan JT, Kean LS
J Clin Oncol 2021 Jun 10;39(17):1865-1877. Epub 2021 Jan 15 doi: 10.1200/JCO.20.01086. PMID: 33449816Free PMC Article
Taplitz RA, Kennedy EB, Bow EJ, Crews J, Gleason C, Hawley DK, Langston AA, Nastoupil LJ, Rajotte M, Rolston KV, Strasfeld L, Flowers CR
J Clin Oncol 2018 Oct 20;36(30):3043-3054. Epub 2018 Sep 4 doi: 10.1200/JCO.18.00374. PMID: 30179565
Taplitz RA, Kennedy EB, Bow EJ, Crews J, Gleason C, Hawley DK, Langston AA, Nastoupil LJ, Rajotte M, Rolston K, Strasfeld L, Flowers CR
J Clin Oncol 2018 May 10;36(14):1443-1453. Epub 2018 Feb 20 doi: 10.1200/JCO.2017.77.6211. PMID: 29461916

Prognosis

Pakkasjärvi N, Syvänen J, Wiro M, Koskimies-Virta E
Birth Defects Res 2022 Dec 1;114(20):1427-1433. Epub 2022 Nov 9 doi: 10.1002/bdr2.2123. PMID: 36353751Free PMC Article
Utarini A, Indriani C, Ahmad RA, Tantowijoyo W, Arguni E, Ansari MR, Supriyati E, Wardana DS, Meitika Y, Ernesia I, Nurhayati I, Prabowo E, Andari B, Green BR, Hodgson L, Cutcher Z, Rancès E, Ryan PA, O'Neill SL, Dufault SM, Tanamas SK, Jewell NP, Anders KL, Simmons CP; AWED Study Group
N Engl J Med 2021 Jun 10;384(23):2177-2186. doi: 10.1056/NEJMoa2030243. PMID: 34107180Free PMC Article
Watkins B, Qayed M, McCracken C, Bratrude B, Betz K, Suessmuth Y, Yu A, Sinclair S, Furlan S, Bosinger S, Tkachev V, Rhodes J, Tumlin AG, Narayan A, Cribbin K, Gillespie S, Gooley TA, Pasquini MC, Hebert K, Kapoor U, Rogatko A, Tighiouart M, Kim S, Bresee C, Choi SW, Davis J, Duncan C, Giller R, Grimley M, Harris AC, Jacobsohn D, Lalefar N, Norkin M, Farhadfar N, Pulsipher MA, Shenoy S, Petrovic A, Schultz KR, Yanik GA, Waller EK, Levine JE, Ferrara JL, Blazar BR, Langston A, Horan JT, Kean LS
J Clin Oncol 2021 Jun 10;39(17):1865-1877. Epub 2021 Jan 15 doi: 10.1200/JCO.20.01086. PMID: 33449816Free PMC Article
Yusuf S, Joseph P, Dans A, Gao P, Teo K, Xavier D, López-Jaramillo P, Yusoff K, Santoso A, Gamra H, Talukder S, Christou C, Girish P, Yeates K, Xavier F, Dagenais G, Rocha C, McCready T, Tyrwhitt J, Bosch J, Pais P; International Polycap Study 3 Investigators
N Engl J Med 2021 Jan 21;384(3):216-228. Epub 2020 Nov 13 doi: 10.1056/NEJMoa2028220. PMID: 33186492Free PMC Article
Arundale AJH, Capin JJ, Zarzycki R, Smith A, Snyder-Mackler L
Sports Health 2018 Sep/Oct;10(5):441-452. Epub 2018 Jun 20 doi: 10.1177/1941738118779023. PMID: 29924719Free PMC Article

Clinical prediction guides

Watkins B, Qayed M, McCracken C, Bratrude B, Betz K, Suessmuth Y, Yu A, Sinclair S, Furlan S, Bosinger S, Tkachev V, Rhodes J, Tumlin AG, Narayan A, Cribbin K, Gillespie S, Gooley TA, Pasquini MC, Hebert K, Kapoor U, Rogatko A, Tighiouart M, Kim S, Bresee C, Choi SW, Davis J, Duncan C, Giller R, Grimley M, Harris AC, Jacobsohn D, Lalefar N, Norkin M, Farhadfar N, Pulsipher MA, Shenoy S, Petrovic A, Schultz KR, Yanik GA, Waller EK, Levine JE, Ferrara JL, Blazar BR, Langston A, Horan JT, Kean LS
J Clin Oncol 2021 Jun 10;39(17):1865-1877. Epub 2021 Jan 15 doi: 10.1200/JCO.20.01086. PMID: 33449816Free PMC Article
Condo D, Lohman R, Kelly M, Carr A
Nutrients 2019 Apr 28;11(5) doi: 10.3390/nu11050971. PMID: 31035346Free PMC Article
Arundale AJH, Capin JJ, Zarzycki R, Smith A, Snyder-Mackler L
Sports Health 2018 Sep/Oct;10(5):441-452. Epub 2018 Jun 20 doi: 10.1177/1941738118779023. PMID: 29924719Free PMC Article
Colella G, Fazioli F, Gallo M, De Chiara A, Apice G, Ruosi C, Cimmino A, de Nigris F
Int J Mol Sci 2018 Feb 21;19(2) doi: 10.3390/ijms19020615. PMID: 29466296Free PMC Article
De Pascale MR, Sommese L, Casamassimi A, Napoli C
Transfus Med Rev 2015 Jan;29(1):52-61. Epub 2014 Nov 18 doi: 10.1016/j.tmrv.2014.11.001. PMID: 25544600

Recent systematic reviews

Rodrigues I, Estêvão Gomes R, Coutinho LM, Rego MT, Machado F, Morais A, Novais Bastos H
Eur Respir Rev 2022 Dec 31;31(166) Epub 2022 Oct 5 doi: 10.1183/16000617.0280-2021. PMID: 36198419Free PMC Article
Gertosio C, Licari A, De Silvestri A, Rebuffi C, Chiappini E, Marseglia GL
Vaccine 2022 Apr 26;40(19):2679-2695. Epub 2022 Mar 31 doi: 10.1016/j.vaccine.2022.03.041. PMID: 35370019
Taplitz RA, Kennedy EB, Bow EJ, Crews J, Gleason C, Hawley DK, Langston AA, Nastoupil LJ, Rajotte M, Rolston KV, Strasfeld L, Flowers CR
J Clin Oncol 2018 Oct 20;36(30):3043-3054. Epub 2018 Sep 4 doi: 10.1200/JCO.18.00374. PMID: 30179565
Taplitz RA, Kennedy EB, Bow EJ, Crews J, Gleason C, Hawley DK, Langston AA, Nastoupil LJ, Rajotte M, Rolston K, Strasfeld L, Flowers CR
J Clin Oncol 2018 May 10;36(14):1443-1453. Epub 2018 Feb 20 doi: 10.1200/JCO.2017.77.6211. PMID: 29461916
Gulliver A, Griffiths KM, Christensen H
BMC Psychiatry 2010 Dec 30;10:113. doi: 10.1186/1471-244X-10-113. PMID: 21192795Free PMC Article

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