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Amelia involving the lower limbs

MedGen UID:
869768
•Concept ID:
C4024197
•
Congenital Abnormality
HPO: HP:0009818

Definition

Complete or near-complete absence of a leg. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAmelia involving the lower limbs

Professional guidelines

PubMed

Proximal Femoral Focal Deficiency/Congenital Femoral Deficiency: Evaluation and Management.
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

Recent clinical studies

Etiology

Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy.
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
Split hand/foot malformation with long bone deficiency associated with BHLHA9 gene duplication: a case report and review of literature.
Paththinige CS, Sirisena ND, Escande F, Manouvrier S, Petit F, Dissanayake VHW
BMC Med Genet 2019 Jun 14;20(1):108. doi: 10.1186/s12881-019-0839-2. PMID: 31200655Free PMC Article
Prenatal diagnosis of type 1 fibular hemimelia.
Yakut ZI, Ipek A, Akkaya H, Arslan H
J Med Ultrason (2001) 2014 Oct;41(4):515-9. Epub 2014 Jul 16 doi: 10.1007/s10396-014-0550-z. PMID: 27278036
Congenital abnormalities associated with limb deficiency defects: a population study based on cases from the Hungarian Congenital Malformation Registry (1975-1984).
Evans JA, Vitez M, Czeizel A
Am J Med Genet 1994 Jan 1;49(1):52-66. doi: 10.1002/ajmg.1320490111. PMID: 8172251
FFU complex: an analysis of 491 cases.
Lenz W, Zygulska M, Horst J
Hum Genet 1993 May;91(4):347-56. doi: 10.1007/BF00217355. PMID: 8500790

Diagnosis

Split hand/foot malformation with long bone deficiency associated with BHLHA9 gene duplication: a case report and review of literature.
Paththinige CS, Sirisena ND, Escande F, Manouvrier S, Petit F, Dissanayake VHW
BMC Med Genet 2019 Jun 14;20(1):108. doi: 10.1186/s12881-019-0839-2. PMID: 31200655Free PMC Article
Prenatal diagnosis of type 1 fibular hemimelia.
Yakut ZI, Ipek A, Akkaya H, Arslan H
J Med Ultrason (2001) 2014 Oct;41(4):515-9. Epub 2014 Jul 16 doi: 10.1007/s10396-014-0550-z. PMID: 27278036
A novel homozygous missense mutation (c.610G>A, p.Gly204Ser) in the WNT7A gene causes tetra-amelia in two Saudi families.
Eyaid W, Al-Qattan MM, Al Abdulkareem I, Fetaini N, Al Balwi M
Am J Med Genet A 2011 Mar;155A(3):599-604. Epub 2011 Feb 22 doi: 10.1002/ajmg.a.33717. PMID: 21344627
Sensitivity to cadmium-chloride-induced forelimb ectrodactyly is independent of the p53 gene-dosage in the C57BL/6J mouse.
Elsaid AF, Koriem KM, Collins MD
Birth Defects Res A Clin Mol Teratol 2010 Apr;88(4):223-7. doi: 10.1002/bdra.20652. PMID: 20213698
Postaxial hypoplasia of the lower extremity.
Stevens PM, Arms D
J Pediatr Orthop 2000 Mar-Apr;20(2):166-72. PMID: 10739276

Therapy

Sensitivity to cadmium-chloride-induced forelimb ectrodactyly is independent of the p53 gene-dosage in the C57BL/6J mouse.
Elsaid AF, Koriem KM, Collins MD
Birth Defects Res A Clin Mol Teratol 2010 Apr;88(4):223-7. doi: 10.1002/bdra.20652. PMID: 20213698
Caudal dysgenesis, sirenomelia, and situs inversus totalis: a primitive defect in blastogenesis.
Rougemont AL, Bouron-Dal Soglio D, Désilets V, Jovanovic M, Perreault G, Laurier Oligny L, Fournet JC
Am J Med Genet A 2008 Jun 1;146A(11):1470-6. doi: 10.1002/ajmg.a.32081. PMID: 18470923

Prognosis

Proximal Femoral Focal Deficiency/Congenital Femoral Deficiency: Evaluation and Management.
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
Sirenomelia (mermaid syndrome): a rare congenital disorder.
Riazat MI, Kewlani B, Abujennah J, Sharif F
BMJ Case Rep 2019 Nov 24;12(11) doi: 10.1136/bcr-2019-229970. PMID: 31767602Free PMC Article
Prenatal diagnosis of type 1 fibular hemimelia.
Yakut ZI, Ipek A, Akkaya H, Arslan H
J Med Ultrason (2001) 2014 Oct;41(4):515-9. Epub 2014 Jul 16 doi: 10.1007/s10396-014-0550-z. PMID: 27278036
Postaxial hypoplasia of the lower extremity.
Stevens PM, Arms D
J Pediatr Orthop 2000 Mar-Apr;20(2):166-72. PMID: 10739276
CANADIAN THALIDOMIDE EXPERIENCE.
WEBB JF
Can Med Assoc J 1963 Nov 9;89(19):987-92. PMID: 14076167Free PMC Article

Clinical prediction guides

Sensitivity to cadmium-chloride-induced forelimb ectrodactyly is independent of the p53 gene-dosage in the C57BL/6J mouse.
Elsaid AF, Koriem KM, Collins MD
Birth Defects Res A Clin Mol Teratol 2010 Apr;88(4):223-7. doi: 10.1002/bdra.20652. PMID: 20213698
Roberts syndrome: study of 4 new Rgyptian cases with comparison of clinical and cytogenetic findings.
Temtamy SA, Ismail S, Helmy NA
Genet Couns 2006;17(1):1-13. PMID: 16719272
Postaxial hypoplasia of the lower extremity.
Stevens PM, Arms D
J Pediatr Orthop 2000 Mar-Apr;20(2):166-72. PMID: 10739276

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