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Complete trisomy 18

MedGen UID:
56262
Concept ID:
C0152096
Disease or Syndrome
Synonym: Complete trisomy 18 syndrome
SNOMED CT: Complete trisomy 18 syndrome (51500006); Edwards syndrome (51500006)
 
Monarch Initiative: MONDO:0700032
OMIM®: 300484

Definition

Trisomy 18, also called Edwards syndrome, is a chromosomal condition associated with abnormalities in many parts of the body. Individuals with trisomy 18 often have slow growth before birth (intrauterine growth retardation) and a low birth weight. Affected individuals may have heart defects and abnormalities of other organs that develop before birth. Other features of trisomy 18 include a small, abnormally shaped head; a small jaw and mouth; and clenched fists with overlapping fingers. Due to the presence of several life-threatening medical problems, many individuals with trisomy 18 die before birth or within their first month. Five to 10 percent of children with this condition live past their first year, and these children often have severe intellectual disability. [from MedlinePlus Genetics]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVComplete trisomy 18
Follow this link to review classifications for Complete trisomy 18 in Orphanet.

Professional guidelines

PubMed

Beke A, Eros FR, Pete B, Szabo I, Gorbe E, Rigo J Jr
BMC Pregnancy Childbirth 2014 Feb 24;14:82. doi: 10.1186/1471-2393-14-82. PMID: 24564681Free PMC Article
Lau TK, Chan MK, Lo PS, Chan HY, Chan WS, Koo TY, Ng HY, Pooh RK
J Matern Fetal Neonatal Med 2012 Oct;25(10):1856-9. Epub 2012 Apr 28 doi: 10.3109/14767058.2012.678442. PMID: 22471583Free PMC Article
Simpson JL, Elias S
Prenat Diagn 1994 Dec;14(13):1229-42. doi: 10.1002/pd.1970141308. PMID: 7617569

Curated

American College of Medical Genetics and Genomics Noninvasive Prenatal Screening via Cell-Free DNA ACT Sheet, Trisomy 18: Positive Cell Free DNA Screen, 2021

Recent clinical studies

Etiology

Birmingham EE, Stucke AG, Diaz CD
Paediatr Anaesth 2021 Apr;31(4):419-428. Epub 2021 Feb 28 doi: 10.1111/pan.14131. PMID: 33644930
Tucker ME, Garringer HJ, Weaver DD
Am J Med Genet A 2007 Mar 1;143A(5):505-17. doi: 10.1002/ajmg.a.31535. PMID: 17266111
Krugmann J, Tzankov A, Dirnhofer S, Fend F, Greil R, Siebert R, Erdel M
J Clin Pathol 2004 Apr;57(4):360-4. doi: 10.1136/jcp.2003.012369. PMID: 15047736Free PMC Article

Diagnosis

Birmingham EE, Stucke AG, Diaz CD
Paediatr Anaesth 2021 Apr;31(4):419-428. Epub 2021 Feb 28 doi: 10.1111/pan.14131. PMID: 33644930

Prognosis

Birmingham EE, Stucke AG, Diaz CD
Paediatr Anaesth 2021 Apr;31(4):419-428. Epub 2021 Feb 28 doi: 10.1111/pan.14131. PMID: 33644930
Nakamura S, Ye H, Bacon CM, Goatly A, Liu H, Banham AH, Ventura R, Matsumoto T, Iida M, Ohji Y, Yao T, Tsuneyoshi M, Du MQ
Gut 2007 Oct;56(10):1358-63. Epub 2007 May 24 doi: 10.1136/gut.2007.123729. PMID: 17525089Free PMC Article
Krugmann J, Tzankov A, Dirnhofer S, Fend F, Greil R, Siebert R, Erdel M
J Clin Pathol 2004 Apr;57(4):360-4. doi: 10.1136/jcp.2003.012369. PMID: 15047736Free PMC Article

Clinical prediction guides

Huang J, Saint-Martin C, Tchakarska G, Lavoie J, Myers KA
Brain Dev 2022 Sep;44(8):562-566. Epub 2022 Apr 22 doi: 10.1016/j.braindev.2022.04.004. PMID: 35469635
Nakamura S, Ye H, Bacon CM, Goatly A, Liu H, Banham AH, Ventura R, Matsumoto T, Iida M, Ohji Y, Yao T, Tsuneyoshi M, Du MQ
Gut 2007 Oct;56(10):1358-63. Epub 2007 May 24 doi: 10.1136/gut.2007.123729. PMID: 17525089Free PMC Article
Krugmann J, Tzankov A, Dirnhofer S, Fend F, Greil R, Siebert R, Erdel M
J Clin Pathol 2004 Apr;57(4):360-4. doi: 10.1136/jcp.2003.012369. PMID: 15047736Free PMC Article
Hernandez A, Corona-Rivera E, Plascencia L, Nazara Z, Ibarra B, Cantu JM
Ann Genet 1979;22(3):165-7. PMID: 316674
Rosenmann A, Isacson M, Cohen R, Segal M, Cohen MM
Ann Genet 1978 Mar;21(1):60-4. PMID: 308346

Supplemental Content

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    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Curated

    • ACMG ACT, 2021
      American College of Medical Genetics and Genomics Noninvasive Prenatal Screening via Cell-Free DNA ACT Sheet, Trisomy 18: Positive Cell Free DNA Screen, 2021

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