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Sirenomelia

MedGen UID:
52357
•Concept ID:
C0037205
•
Congenital Abnormality
Synonyms: Fused legs and feet; Mermaid malformation; Mermaid syndrome; Sirenomelia sequence; Sirenomelus
SNOMED CT: Sirenomelus (723973002); Sirenomelia sequence (723973002)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
•Concept ID:
CN307044
•
Finding
Source: Orphanet
clinical entity without genetic inheritance.
See: This record
Not genetically inherited (Orphanet)
 
HPO: HP:0010497
Monarch Initiative: MONDO:0017850
OMIM®: 600145
Orphanet: ORPHA3169

Definition

A developmental defect in which the legs are fused together. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSirenomelia

Professional guidelines

PubMed

Prenatal diagnosis of sirenomelia by two-dimensional and three-dimensional skeletal imaging ultrasound.
Liu R, Chen XL, Yang XH, Ma HJ
J Huazhong Univ Sci Technolog Med Sci 2015 Dec;35(6):928-931. Epub 2015 Dec 16 doi: 10.1007/s11596-015-1530-2. PMID: 26670448
Prenatal diagnosis of sirenomelia.
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

Recent clinical studies

Etiology

Spectrum of fetal limb anomalies.
Thakur S, Chaddha V, Gupta R, Singh C, Dagar S, Shastri A, Tiwari B, Kavitha, Sethia V, Malik M, Jain P, Kapoor A, Kapoor A, Kapoor T, Kapoor A, Kapoor R, Kumar M, Uppal R
J Clin Ultrasound 2023 Jan;51(1):96-106. Epub 2022 Aug 10 doi: 10.1002/jcu.23273. PMID: 36639848
Sirenomelia: two case reports.
Shojaee A, Ronnasian F, Behnam M, Salehi M
J Med Case Rep 2021 Apr 26;15(1):217. doi: 10.1186/s13256-021-02699-4. PMID: 33902682Free PMC Article
Surviving sirenomelia.
Pinette MG, Hand M, Hunt RC, Blackstone J, Wax JR, Cartin A
J Ultrasound Med 2005 Nov;24(11):1555-9. doi: 10.7863/jum.2005.24.11.1555. PMID: 16239660
Defects of blastogenesis.
Opitz JM, Zanni G, Reynolds JF Jr, Gilbert-Barness E
Am J Med Genet 2002 Dec 30;115(4):269-86. doi: 10.1002/ajmg.10983. PMID: 12503120
Patterns in multimalformed babies and the question of the relationship between sirenomelia and VACTERL.
Schüler L, Salzano FM
Am J Med Genet 1994 Jan 1;49(1):29-35. doi: 10.1002/ajmg.1320490108. PMID: 8172248

Diagnosis

First-trimester sonographic diagnosis of sirenomelia: A multicenter series of 12 cases and review of the literature.
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
Sirenomelia in twin pregnancy: A case report and literature review.
Xu T, Wang X, Luo H, Yu H
Medicine (Baltimore) 2018 Dec;97(51):e13672. doi: 10.1097/MD.0000000000013672. PMID: 30572488Free PMC Article
Sirenomelia: A Multi-systemic Polytopic Field Defect with Ongoing Controversies.
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
Sirenomelia.
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
Defects of blastogenesis.
Opitz JM, Zanni G, Reynolds JF Jr, Gilbert-Barness E
Am J Med Genet 2002 Dec 30;115(4):269-86. doi: 10.1002/ajmg.10983. PMID: 12503120

Therapy

Exposure to methylergonovine maleate as a cause of sirenomelia.
Cozzolino M, Riviello C, Fichtel G, Tommaso MD
Birth Defects Res A Clin Mol Teratol 2016 Jul;106(7):643-7. Epub 2016 Apr 18 doi: 10.1002/bdra.23503. PMID: 27086509
Sirenomelia: two cases in Cali, Colombia.
Saldarriaga W, Salcedo-Arellano MJ, Ramirez-Cheyne J
BMJ Case Rep 2015 Jan 30;2015 doi: 10.1136/bcr-2014-207543. PMID: 25636631Free PMC Article
Sirenomelia after phenobarbital and carbamazepine therapy in pregnancy.
Tica OS, Tica AA, Brailoiu CG, Cernea N, Tica VI
Birth Defects Res A Clin Mol Teratol 2013 Jun;97(6):425-8. Epub 2013 Jun 15 doi: 10.1002/bdra.23132. PMID: 23776071
Clusters of sirenomelia in South America.
Orioli IM, Mastroiacovo P, López-Camelo JS, Saldarriaga W, Isaza C, Aiello H, Zarante I, Castilla EE
Birth Defects Res A Clin Mol Teratol 2009 Feb;85(2):112-8. doi: 10.1002/bdra.20492. PMID: 18712806
Sirenomelia and cyclopia cluster in Cali, Colombia.
Castilla EE, Mastroiacovo P, López-Camelo JS, Saldarriaga W, Isaza C, Orioli IM
Am J Med Genet A 2008 Oct 15;146A(20):2626-36. doi: 10.1002/ajmg.a.32506. PMID: 18798307

Prognosis

Sirenomelia in twin pregnancy: A case report and literature review.
Xu T, Wang X, Luo H, Yu H
Medicine (Baltimore) 2018 Dec;97(51):e13672. doi: 10.1097/MD.0000000000013672. PMID: 30572488Free PMC Article
Surviving sirenomelia.
Pinette MG, Hand M, Hunt RC, Blackstone J, Wax JR, Cartin A
J Ultrasound Med 2005 Nov;24(11):1555-9. doi: 10.7863/jum.2005.24.11.1555. PMID: 16239660
Sirenomelia.
Bhardwaj AP
Indian Pediatr 2004 Feb;41(2):196. PMID: 15004311
Sirenomelia.
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
Sacrococcygeal dysgenesis association.
Duncan PA, Shapiro LR, Klein RM
Am J Med Genet 1991 Nov 1;41(2):153-61. doi: 10.1002/ajmg.1320410203. PMID: 1785625

Clinical prediction guides

Spectrum of fetal limb anomalies.
Thakur S, Chaddha V, Gupta R, Singh C, Dagar S, Shastri A, Tiwari B, Kavitha, Sethia V, Malik M, Jain P, Kapoor A, Kapoor A, Kapoor T, Kapoor A, Kapoor R, Kumar M, Uppal R
J Clin Ultrasound 2023 Jan;51(1):96-106. Epub 2022 Aug 10 doi: 10.1002/jcu.23273. PMID: 36639848
Sirenomelia in twin pregnancy: A case report and literature review.
Xu T, Wang X, Luo H, Yu H
Medicine (Baltimore) 2018 Dec;97(51):e13672. doi: 10.1097/MD.0000000000013672. PMID: 30572488Free PMC Article
Sirenomelia: A Multi-systemic Polytopic Field Defect with Ongoing Controversies.
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
Patterns in multimalformed babies and the question of the relationship between sirenomelia and VACTERL.
Schüler L, Salzano FM
Am J Med Genet 1994 Jan 1;49(1):29-35. doi: 10.1002/ajmg.1320490108. PMID: 8172248
Sirenomelia and anencephaly.
Rodríguez JI, Palacios J, Razquin S
Am J Med Genet 1991 Apr 1;39(1):25-7. doi: 10.1002/ajmg.1320390107. PMID: 1867259

Recent systematic reviews

Sirenomelia: a review on embryogenic enviromental theories, novel three-dimensional ultrasound imaging and first trimester diagnosis in a case of mosaic 69,XXX/46,XX fetus.
Tonni G, Grisolia G
Arch Gynecol Obstet 2013 Jul;288(1):3-11. Epub 2013 Apr 27 doi: 10.1007/s00404-013-2847-3. PMID: 23625330

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