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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

Mermaid syndrome: Rare genetic anomaly.
Javed HS, Khalid MI
J Pak Med Assoc 2023 Apr;73(4):915-918. doi: 10.47391/JPMA.6073. PMID: 37052015
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

Sirenomelia, case report and review of the literature.
Morales-Roselló J, Loscalzo G, Buongiorno S, Jakaitė V, Perales-Marín A
J Matern Fetal Neonatal Med 2022 Mar;35(6):1203-1206. Epub 2020 Mar 26 doi: 10.1080/14767058.2020.1742693. PMID: 32216506
Sirenomelia (symelia apus) with Potter's syndrome in connection with gestational diabetes mellitus: a case report and literature review.
Al-Haggar M, Yahia S, Abdel-Hadi D, Grill F, Al Kaissi A
Afr Health Sci 2010 Dec;10(4):395-9. PMID: 21416043Free PMC Article
Sirenomelia.
Akhtar R, Humayun Y
J Coll Physicians Surg Pak 2010 May;20(5):343-4. PMID: 20642932
Sirenomelia.
Bhardwaj AP
Indian Pediatr 2004 Feb;41(2):196. PMID: 15004311
Long term survival of an infant with sirenomelia.
Clarke LA, Stringer DA, Fraser GC, Yong SL
Am J Med Genet 1993 Feb 1;45(3):292-6. doi: 10.1002/ajmg.1320450303. PMID: 8434614

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 apus after trimethoprim exposure: first-trimester ultrasound diagnosis-a case report.
Dosedla E, Kalafusová M, Calda P
J Clin Ultrasound 2012 Nov-Dec;40(9):594-7. Epub 2012 Mar 29 doi: 10.1002/jcu.21915. PMID: 22467597
Sirenomelia (mermaid syndrome): an infant from parents who used a special form of snuff.
Taghavi MM, Jafari Naveh HR, Shariati M, Morteza Zade F
Pak J Biol Sci 2009 May 1;12(9):722-5. doi: 10.3923/pjbs.2009.722.725. PMID: 19634478
The use of saline solution as a contrast medium in suspected diaphragmatic hernia and renal agenesis.
Haeusler MC, Ryan G, Robson SC, Lipitz S, Rodeck CH
Am J Obstet Gynecol 1993 May;168(5):1486-92. doi: 10.1016/s0002-9378(11)90786-8. PMID: 8498432
A case of partial sirenomelia and possible vitamin A teratogenesis.
Von Lennep E, El Khazen N, De Pierreux G, Amy JJ, Rodesch F, Van Regemorter N
Prenat Diagn 1985 Jan-Feb;5(1):35-40. doi: 10.1002/pd.1970050107. PMID: 3156316

Prognosis

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
Sirenomelia (symelia apus) with Potter's syndrome in connection with gestational diabetes mellitus: a case report and literature review.
Al-Haggar M, Yahia S, Abdel-Hadi D, Grill F, Al Kaissi A
Afr Health Sci 2010 Dec;10(4):395-9. PMID: 21416043Free 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

Clinical prediction guides

In search of the earliest images of symmelia in works of art.
Schwartz CE, Stevenson RE
Am J Med Genet C Semin Med Genet 2021 Jun;187(2):151-156. Epub 2021 May 12 doi: 10.1002/ajmg.c.31856. PMID: 33982428
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
Craniorachischisis totalis and sirenomelia.
Rodríguez JI, Palacios J
Am J Med Genet 1992 Jul 1;43(4):732-6. doi: 10.1002/ajmg.1320430416. PMID: 1621765
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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