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Amelia of lower limb

MedGen UID:
539370
Concept ID:
C0265621
Congenital Abnormality
Synonyms: amelia of lower limb; Congenital complete absence of lower limb; hindlimb non-syndromic amelia; non-syndromic amelia of hindlimb; Transverse deficiency lower limb - hip level
SNOMED CT: Amelia of lower limb (265798000); Transverse deficiency lower limb - hip level (205203006); Congenital complete absence of lower limb (265798000)
 
Monarch Initiative: MONDO:0017438
Orphanet: ORPHA294969

Definition

A rare, non-syndromic limb reduction defect characterized by complete or near-complete congenital absence of one (unilateral) or both (bilateral) of the lower extremities, occurring due to an intrauterine insult during the very early stages of embryonic development. It may be an isolated anomaly, but is more commonly observed in combination with multiple other congenital malformations. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAmelia of lower limb

Professional guidelines

PubMed

Nossov SB, Hollin IL, Phillips J, Franklin CC
J Am Acad Orthop Surg 2022 Jul 1;30(13):e899-e910. Epub 2022 Apr 28 doi: 10.5435/JAAOS-D-21-01186. PMID: 35486897
Sirtori M, Ghidini A, Romero R, Hobbins JC
J Ultrasound Med 1989 Feb;8(2):83-8. doi: 10.7863/jum.1989.8.2.83. PMID: 2651695
Fletcher I
Clin Orthop Relat Res 1980 May;(148):18-25. PMID: 6991189

Recent clinical studies

Etiology

Donkervoort S, Mohassel P, O'Leary M, Bonner DE, Hartley T, Acquaye N, Brull A, Mozaffar T, Saporta MA, Dyment DA, Sampson JB, Pajusalu S, Austin-Tse C, Hurth K, Cohen JS, McWalter K, Warman-Chardon J, Crunk A, Foley AR; Undiagnosed Diseases Network, Mammen AL, Wheeler MT, O'Donnell-Luria A, Bönnemann CG
Ann Clin Transl Neurol 2024 Mar;11(3):629-640. Epub 2024 Feb 4 doi: 10.1002/acn3.51983. PMID: 38311799Free PMC Article
Ghaly HM, El-Rosasy MA, Marei AE, El-Gebaly OA
J Orthop Surg Res 2023 Nov 8;18(1):844. doi: 10.1186/s13018-023-04229-y. PMID: 37936235Free PMC Article
Bakircioglu S, Goker B, Yilmaz A, Aksoy T, Aksoy MC, Yilmaz G
J Pediatr Orthop 2023 Aug 1;43(7):e574-e582. Epub 2023 May 23 doi: 10.1097/BPO.0000000000002436. PMID: 37254033
Isaacs-Itua A, Sedki I
Prosthet Orthot Int 2023 Feb 1;47(1):107-111. Epub 2022 Jun 22 doi: 10.1097/PXR.0000000000000154. PMID: 36791384
Zhang Z, Yi D, Xie R, Hamilton JL, Kang QL, Chen D
Ann N Y Acad Sci 2017 Dec;1409(1):67-78. Epub 2017 Oct 9 doi: 10.1111/nyas.13440. PMID: 28990185Free PMC Article

Diagnosis

Nayak SS, Harkness R, Shukla A, Banka S, Newman WG, Girisha KM
Am J Med Genet A 2023 Mar;191(3):730-741. Epub 2022 Dec 7 doi: 10.1002/ajmg.a.63067. PMID: 36478354Free PMC Article
Joseph B
J Pediatr Orthop 2021 Feb 1;41(2):e103-e104. doi: 10.1097/BPO.0000000000001685. PMID: 33017336
Sepulveda W, Bornstein E, Andreeva E, Montano I, Gutierrez J, Martinez-Ten P, Meagher S
Prenat Diagn 2020 Apr;40(5):626-634. Epub 2020 Mar 4 doi: 10.1002/pd.5667. PMID: 32040213
Boer LL, Morava E, Klein WM, Schepens-Franke AN, Oostra RJ
Birth Defects Res 2017 Jun 1;109(10):791-804. Epub 2017 May 16 doi: 10.1002/bdr2.1049. PMID: 28509418
Banerjee A, Faridi MM, Banerjee TK, Mandal RN, Aggarwal A
Indian J Pediatr 2003 Jul;70(7):589-91. doi: 10.1007/BF02723165. PMID: 12940384

Therapy

Bakircioglu S, Goker B, Yilmaz A, Aksoy T, Aksoy MC, Yilmaz G
J Pediatr Orthop 2023 Aug 1;43(7):e574-e582. Epub 2023 May 23 doi: 10.1097/BPO.0000000000002436. PMID: 37254033
Mishima K, Kitoh H, Iwata K, Matsushita M, Nishida Y, Hattori T, Ishiguro N
Medicine (Baltimore) 2016 May;95(21):e3787. doi: 10.1097/MD.0000000000003787. PMID: 27227952Free PMC Article
Gardner E, O'Rahilly R
Lancet 1976 Mar 20;1(7960):635-7. doi: 10.1016/s0140-6736(76)90433-5. PMID: 55906
Janerich DT, Piper JM, Glebatis DM
N Engl J Med 1974 Oct 3;291(14):697-700. doi: 10.1056/NEJM197410032911403. PMID: 4853481
Smithells RW
Br Med J 1973 Feb 3;1(5848):269-72. doi: 10.1136/bmj.1.5848.269. PMID: 4631040Free PMC Article

Prognosis

Ghaly HM, El-Rosasy MA, Marei AE, El-Gebaly OA
J Orthop Surg Res 2023 Nov 8;18(1):844. doi: 10.1186/s13018-023-04229-y. PMID: 37936235Free PMC Article
Kattel P
JNMA J Nepal Med Assoc 2018 Nov-Dec;56(214):974-976. doi: 10.31729/jnma.3884. PMID: 31065147Free PMC Article
Ozturk MA, Bastug O, Halis H, Korkmaz L, Memur S, Sarici D, Kara A
J Neonatal Perinatal Med 2014 Jan 1;7(3):253-6. doi: 10.3233/NPM-1476813. PMID: 25322991
Banerjee A, Faridi MM, Banerjee TK, Mandal RN, Aggarwal A
Indian J Pediatr 2003 Jul;70(7):589-91. doi: 10.1007/BF02723165. PMID: 12940384
WEBB JF
Can Med Assoc J 1963 Nov 9;89(19):987-92. PMID: 14076167Free PMC Article

Clinical prediction guides

Bakircioglu S, Goker B, Yilmaz A, Aksoy T, Aksoy MC, Yilmaz G
J Pediatr Orthop 2023 Aug 1;43(7):e574-e582. Epub 2023 May 23 doi: 10.1097/BPO.0000000000002436. PMID: 37254033
Morris EJ, Tofts L, Patterson M, Birke O, Adams R, Epps A, Knox K, McKay MJ, Baldwin JN, Burns J, Pacey V
Disabil Rehabil 2022 Jun;44(12):2763-2773. Epub 2020 Dec 17 doi: 10.1080/09638288.2020.1849420. PMID: 33331793
Kattel P
JNMA J Nepal Med Assoc 2018 Nov-Dec;56(214):974-976. doi: 10.31729/jnma.3884. PMID: 31065147Free PMC Article
Boer LL, Morava E, Klein WM, Schepens-Franke AN, Oostra RJ
Birth Defects Res 2017 Jun 1;109(10):791-804. Epub 2017 May 16 doi: 10.1002/bdr2.1049. PMID: 28509418
Mishima K, Kitoh H, Iwata K, Matsushita M, Nishida Y, Hattori T, Ishiguro N
Medicine (Baltimore) 2016 May;95(21):e3787. doi: 10.1097/MD.0000000000003787. PMID: 27227952Free PMC Article

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