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TORCH syndrome

MedGen UID:
78715
•Concept ID:
C0270173
•
Disease or Syndrome
Synonyms: TORCH infection; TORCH Syndrome; torch syndrome; Toxoplasma, rubella, cytomegalovirus AND herpes simplex mixed infection; Toxoplasma, rubella, cytomegalovirus and herpes simplex mixed infection; Toxoplasmosis, other infections, rubella, cytomegalovirus, and herpes simplex virus (TORCH) syndrome; toxoplasmosis, Other infections, Rubella, Cytomegalovirus, and Herpes simplex Virus (TORCH) syndrome; toxoplasmosis, other infections, rubella, cytomegalovirus, and herpes simplex virus (torch) syndrome; Toxoplasmosis, other infections, rubella, cytomegalovirus, and herpes simplex virus syndrome; toxoplasmosis, other infections, rubella, cytomegalovirus, and herpes simplex virus syndrome
SNOMED CT: Toxoplasmosis, other infections, rubella, cytomegalovirus, and herpes simplex virus (TORCH) syndrome (41679006); Toxoplasmosis, other infections, rubella, cytomegalovirus, and herpes simplex virus syndrome (41679006); TORCH syndrome (41679006); Toxoplasma, rubella, cytomegalovirus AND herpes simplex mixed infection (41679006)
 
Monarch Initiative: MONDO:0043275

Definition

A syndrome that results from a group of infections that affect the fetus or the newborn. The group of infections includes Toxoplasma gondii, rubella, cytomegalovirus, herpes simplex virus, and other infections. The other infections include varicella-zoster virus, hepatitis B virus, human immunodeficiency virus, parvovirus B19, and syphilis. Signs and symptoms include fever, feeding difficulties, petechial rash, jaundice, hepatosplenomegaly, chorioretinitis, and microcephaly. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVTORCH syndrome

Professional guidelines

PubMed

Blueberry muffin baby: a pictoral differential diagnosis.
Mehta V, Balachandran C, Lonikar V
Dermatol Online J 2008 Feb 28;14(2):8. PMID: 18700111

Recent clinical studies

Etiology

Development of a community-based hearing loss prevention and control service model in Guangdong, China.
Liu C, Wang A, Huang Y, Zhang Y, Ding H, Wu J, Du L, Yang J, Mai F, Zeng Y, Liu L, Zhao X, Zhang C, Yin A
BMC Public Health 2019 Nov 29;19(1):1601. doi: 10.1186/s12889-019-7910-y. PMID: 31783833Free PMC Article
Hearing-loss-associated gene detection in neonatal intensive care unit.
Yang SM, Liu Y, Liu C, Yin AH, Wu YF, Zheng XE, Yang HM, Yang J
J Matern Fetal Neonatal Med 2018 Feb;31(3):284-288. Epub 2017 Mar 27 doi: 10.1080/14767058.2017.1282454. PMID: 28093008
Recurrent pseudo-TORCH appearances of the brain presenting as "Dandy-Walker" malformation.
Cohen MC, Karaman I, Squier W, Farrel T, Whitby EH
Pediatr Dev Pathol 2012 Jan-Feb;15(1):45-9. Epub 2011 Jul 15 doi: 10.2350/10-01-0783-CR.1. PMID: 21762029
Biological mechanisms of environmentally induced causes of IUGR.
Prada JA, Tsang RC
Eur J Clin Nutr 1998 Jan;52 Suppl 1:S21-7; discussion S27-8. PMID: 9511016
TORCH syndrome.
Epps RE, Pittelkow MR, Su WP
Semin Dermatol 1995 Jun;14(2):179-86. doi: 10.1016/s1085-5629(05)80016-1. PMID: 7640200

Diagnosis

Aicardi-Goutières syndrome (AGS): recurrent fetal cardiomyopathy and pseudo-TORCH syndrome.
Panigrahy N, Bakhru S, Lingappa L, Chirla D
BMJ Case Rep 2022 Dec 29;15(12) doi: 10.1136/bcr-2022-249192. PMID: 36581356Free PMC Article
TORCH syndrome.
Epps RE, Pittelkow MR, Su WP
Semin Dermatol 1995 Jun;14(2):179-86. doi: 10.1016/s1085-5629(05)80016-1. PMID: 7640200
Neuroradiology of intracranial infection.
Smith RR
Pediatr Neurosurg 1992;18(2):92-104. doi: 10.1159/000120647. PMID: 1419847
TORCH syndrome and TORCH screening.
Lancet 1990 Jun 30;335(8705):1559-61. PMID: 1972489
The "torch syndrome.
Shin YH, Glass L, Evans HE
Pediatr Ann 1976 Feb;5(2):106-13. doi: 10.3928/0090-4481-19760201-11. PMID: 177938

Therapy

Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome.
Meuwissen ME, Schot R, Buta S, Oudesluijs G, Tinschert S, Speer SD, Li Z, van Unen L, Heijsman D, Goldmann T, Lequin MH, Kros JM, Stam W, Hermann M, Willemsen R, Brouwer RW, Van IJcken WF, Martin-Fernandez M, de Coo I, Dudink J, de Vries FA, Bertoli Avella A, Prinz M, Crow YJ, Verheijen FW, Pellegrini S, Bogunovic D, Mancini GM
J Exp Med 2016 Jun 27;213(7):1163-74. Epub 2016 Jun 20 doi: 10.1084/jem.20151529. PMID: 27325888Free PMC Article
TORCH syndrome.
Epps RE, Pittelkow MR, Su WP
Semin Dermatol 1995 Jun;14(2):179-86. doi: 10.1016/s1085-5629(05)80016-1. PMID: 7640200

Prognosis

Zika Virus Infection in a Cohort of Pregnant Women with Exanthematic Disease in Manaus, Brazilian Amazon.
Redivo EF, Bôtto Menezes C, da Costa Castilho M, Brock M, da Silva Magno E, Gomes Saraiva MDG, Alvarez Fernandes SS, Costa Antony de Andrade AB, Costa Alecrim MDG, Martinez-Espinosa FE
Viruses 2020 Nov 28;12(12) doi: 10.3390/v12121362. PMID: 33260784Free PMC Article
Recurrent pseudo-TORCH appearances of the brain presenting as "Dandy-Walker" malformation.
Cohen MC, Karaman I, Squier W, Farrel T, Whitby EH
Pediatr Dev Pathol 2012 Jan-Feb;15(1):45-9. Epub 2011 Jul 15 doi: 10.2350/10-01-0783-CR.1. PMID: 21762029
Microcephaly, malformation of brain development and intracranial calcification in sibs: pseudo-TORCH or a new syndrome.
Abdel-Salam GM, Zaki MS, Saleem SN, Gaber KR
Am J Med Genet A 2008 Nov 15;146A(22):2929-36. doi: 10.1002/ajmg.a.32549. PMID: 18925673
Genetic syndromes mimic congenital infections.
Sanchis A, Cerveró L, Bataller A, Tortajada JL, Huguet J, Crow YJ, Ali M, Higuet LJ, Martínez-Frías ML
J Pediatr 2005 May;146(5):701-5. doi: 10.1016/j.jpeds.2005.01.033. PMID: 15870678
The TORCH syndrome: a clinical review.
Fine JD, Arndt KA
J Am Acad Dermatol 1985 Apr;12(4):697-706. doi: 10.1016/s0190-9622(85)70095-3. PMID: 2985660

Clinical prediction guides

Zika Virus Infection in a Cohort of Pregnant Women with Exanthematic Disease in Manaus, Brazilian Amazon.
Redivo EF, Bôtto Menezes C, da Costa Castilho M, Brock M, da Silva Magno E, Gomes Saraiva MDG, Alvarez Fernandes SS, Costa Antony de Andrade AB, Costa Alecrim MDG, Martinez-Espinosa FE
Viruses 2020 Nov 28;12(12) doi: 10.3390/v12121362. PMID: 33260784Free PMC Article
A homozygous mutation in the tight-junction protein JAM3 causes hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts.
Mochida GH, Ganesh VS, Felie JM, Gleason D, Hill RS, Clapham KR, Rakiec D, Tan WH, Akawi N, Al-Saffar M, Partlow JN, Tinschert S, Barkovich AJ, Ali B, Al-Gazali L, Walsh CA
Am J Hum Genet 2010 Dec 10;87(6):882-9. Epub 2010 Nov 25 doi: 10.1016/j.ajhg.2010.10.026. PMID: 21109224Free PMC Article
Blueberry muffin baby: a pictoral differential diagnosis.
Mehta V, Balachandran C, Lonikar V
Dermatol Online J 2008 Feb 28;14(2):8. PMID: 18700111
Genetic syndromes mimic congenital infections.
Sanchis A, Cerveró L, Bataller A, Tortajada JL, Huguet J, Crow YJ, Ali M, Higuet LJ, Martínez-Frías ML
J Pediatr 2005 May;146(5):701-5. doi: 10.1016/j.jpeds.2005.01.033. PMID: 15870678
Cree encephalitis is allelic with Aicardi-Goutiéres syndrome: implications for the pathogenesis of disorders of interferon alpha metabolism.
Crow YJ, Black DN, Ali M, Bond J, Jackson AP, Lefson M, Michaud J, Roberts E, Stephenson JB, Woods CG, Lebon P
J Med Genet 2003 Mar;40(3):183-7. doi: 10.1136/jmg.40.3.183. PMID: 12624136Free PMC Article

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