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Congenital syphilis

MedGen UID:
52622
Concept ID:
C0039131
Disease or Syndrome
Synonyms: Congenital Syphilis; Syphilis, Congenital
SNOMED CT: Congenital syphilis (35742006)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Monarch Initiative: MONDO:0005714
Orphanet: ORPHA499009

Definition

A rare teratologic disease caused by vertical transmission of the spirochete <i>Treponema pallidum</i> from an infected mother to the fetus, characterized by early congenital syphilis during the first two years of life (maculopapular rash progressing to desquamation, hepatosplenomegaly, osteochondritis, snuffles, and iritis), followed by late congenital syphilis with the classic Hutchinson's triad of Hutchinson's teeth, interstitial keratitis, and eighth nerve deafness. Additional signs may include saddle nose, saber shins, seizures, and mental retardation. Congenital syphilis can also result in stillbirth, neonatal death, and nonimmune hydrops. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCongenital syphilis

Professional guidelines

PubMed

Lorenz ZW, Nijhar S, Caufield-Noll C, Ghanem KG, Hamill MM
Sex Transm Dis 2023 Aug 1;50(8):472-478. Epub 2023 Apr 1 doi: 10.1097/OLQ.0000000000001813. PMID: 37010823
Whiting C, Schwartzman G, Khachemoune A
Am J Clin Dermatol 2023 Mar;24(2):287-297. Epub 2023 Jan 23 doi: 10.1007/s40257-022-00755-3. PMID: 36689103Free PMC Article
Trinh T, Leal AF, Mello MB, Taylor MM, Barrow R, Wi TE, Kamb ML
Sex Reprod Health Matters 2019 Dec;27(1):69-82. doi: 10.1080/26410397.2019.1691897. PMID: 31884900Free PMC Article

Recent clinical studies

Etiology

Thean L, Moore A, Nourse C
Curr Opin Infect Dis 2022 Oct 1;35(5):452-460. doi: 10.1097/QCO.0000000000000875. PMID: 36066379
Eppes CS, Stafford I, Rac M
Am J Obstet Gynecol 2022 Dec;227(6):822-838. Epub 2022 Aug 3 doi: 10.1016/j.ajog.2022.07.041. PMID: 35932881
Adhikari EH
Obstet Gynecol 2020 May;135(5):1121-1135. doi: 10.1097/AOG.0000000000003788. PMID: 32282589
Torres RG, Mendonça ALN, Montes GC, Manzan JJ, Ribeiro JU, Paschoini MC
Rev Bras Ginecol Obstet 2019 Feb;41(2):90-96. Epub 2019 Feb 20 doi: 10.1055/s-0038-1676569. PMID: 30786305Free PMC Article
Rac MW, Revell PA, Eppes CS
Am J Obstet Gynecol 2017 Apr;216(4):352-363. Epub 2016 Dec 9 doi: 10.1016/j.ajog.2016.11.1052. PMID: 27956203

Diagnosis

Stafford IA, Workowski KA, Bachmann LH
N Engl J Med 2024 Jan 18;390(3):242-253. doi: 10.1056/NEJMra2202762. PMID: 38231625
Thean L, Moore A, Nourse C
Curr Opin Infect Dis 2022 Oct 1;35(5):452-460. doi: 10.1097/QCO.0000000000000875. PMID: 36066379
Medoro AK, Sánchez PJ
Clin Perinatol 2021 Jun;48(2):293-309. doi: 10.1016/j.clp.2021.03.005. PMID: 34030815
Keuning MW, Kamp GA, Schonenberg-Meinema D, Dorigo-Zetsma JW, van Zuiden JM, Pajkrt D
Lancet Infect Dis 2020 Jul;20(7):e173-e179. Epub 2020 Jun 2 doi: 10.1016/S1473-3099(20)30268-1. PMID: 32502432
Cooper JM, Sánchez PJ
Semin Perinatol 2018 Apr;42(3):176-184. Epub 2018 Apr 5 doi: 10.1053/j.semperi.2018.02.005. PMID: 29627075

Therapy

Eppes CS, Stafford I, Rac M
Am J Obstet Gynecol 2022 Dec;227(6):822-838. Epub 2022 Aug 3 doi: 10.1016/j.ajog.2022.07.041. PMID: 35932881
Rac MWF, Stafford IA, Eppes CS
Prenat Diagn 2020 Dec;40(13):1703-1714. Epub 2020 Jul 20 doi: 10.1002/pd.5728. PMID: 32362058
Cooper JM, Sánchez PJ
Semin Perinatol 2018 Apr;42(3):176-184. Epub 2018 Apr 5 doi: 10.1053/j.semperi.2018.02.005. PMID: 29627075
Rac MW, Revell PA, Eppes CS
Am J Obstet Gynecol 2017 Apr;216(4):352-363. Epub 2016 Dec 9 doi: 10.1016/j.ajog.2016.11.1052. PMID: 27956203
Neu N, Duchon J, Zachariah P
Clin Perinatol 2015 Mar;42(1):77-103, viii. Epub 2014 Dec 20 doi: 10.1016/j.clp.2014.11.001. PMID: 25677998

Prognosis

Pascoal LB, Carellos EVM, Tarabai BHM, Vieira CC, Rezende LG, Salgado BSF, de Castro Romanelli RM
Trop Med Int Health 2023 Jun;28(6):442-453. Epub 2023 May 8 doi: 10.1111/tmi.13881. PMID: 37156513
GBD 2019 Diseases and Injuries Collaborators
Lancet 2020 Oct 17;396(10258):1204-1222. doi: 10.1016/S0140-6736(20)30925-9. PMID: 33069326Free PMC Article
Trinh T, Leal AF, Mello MB, Taylor MM, Barrow R, Wi TE, Kamb ML
Sex Reprod Health Matters 2019 Dec;27(1):69-82. doi: 10.1080/26410397.2019.1691897. PMID: 31884900Free PMC Article
Torres RG, Mendonça ALN, Montes GC, Manzan JJ, Ribeiro JU, Paschoini MC
Rev Bras Ginecol Obstet 2019 Feb;41(2):90-96. Epub 2019 Feb 20 doi: 10.1055/s-0038-1676569. PMID: 30786305Free PMC Article
Cooper JM, Sánchez PJ
Semin Perinatol 2018 Apr;42(3):176-184. Epub 2018 Apr 5 doi: 10.1053/j.semperi.2018.02.005. PMID: 29627075

Clinical prediction guides

Pascoal LB, Carellos EVM, Tarabai BHM, Vieira CC, Rezende LG, Salgado BSF, de Castro Romanelli RM
Trop Med Int Health 2023 Jun;28(6):442-453. Epub 2023 May 8 doi: 10.1111/tmi.13881. PMID: 37156513
Rac MWF, Stafford IA, Eppes CS
Prenat Diagn 2020 Dec;40(13):1703-1714. Epub 2020 Jul 20 doi: 10.1002/pd.5728. PMID: 32362058
Torres RG, Mendonça ALN, Montes GC, Manzan JJ, Ribeiro JU, Paschoini MC
Rev Bras Ginecol Obstet 2019 Feb;41(2):90-96. Epub 2019 Feb 20 doi: 10.1055/s-0038-1676569. PMID: 30786305Free PMC Article
Lozano R, Naghavi M, Foreman K, Lim S, Shibuya K, Aboyans V, Abraham J, Adair T, Aggarwal R, Ahn SY, Alvarado M, Anderson HR, Anderson LM, Andrews KG, Atkinson C, Baddour LM, Barker-Collo S, Bartels DH, Bell ML, Benjamin EJ, Bennett D, Bhalla K, Bikbov B, Bin Abdulhak A, Birbeck G, Blyth F, Bolliger I, Boufous S, Bucello C, Burch M, Burney P, Carapetis J, Chen H, Chou D, Chugh SS, Coffeng LE, Colan SD, Colquhoun S, Colson KE, Condon J, Connor MD, Cooper LT, Corriere M, Cortinovis M, de Vaccaro KC, Couser W, Cowie BC, Criqui MH, Cross M, Dabhadkar KC, Dahodwala N, De Leo D, Degenhardt L, Delossantos A, Denenberg J, Des Jarlais DC, Dharmaratne SD, Dorsey ER, Driscoll T, Duber H, Ebel B, Erwin PJ, Espindola P, Ezzati M, Feigin V, Flaxman AD, Forouzanfar MH, Fowkes FG, Franklin R, Fransen M, Freeman MK, Gabriel SE, Gakidou E, Gaspari F, Gillum RF, Gonzalez-Medina D, Halasa YA, Haring D, Harrison JE, Havmoeller R, Hay RJ, Hoen B, Hotez PJ, Hoy D, Jacobsen KH, James SL, Jasrasaria R, Jayaraman S, Johns N, Karthikeyan G, Kassebaum N, Keren A, Khoo JP, Knowlton LM, Kobusingye O, Koranteng A, Krishnamurthi R, Lipnick M, Lipshultz SE, Ohno SL, Mabweijano J, MacIntyre MF, Mallinger L, March L, Marks GB, Marks R, Matsumori A, Matzopoulos R, Mayosi BM, McAnulty JH, McDermott MM, McGrath J, Mensah GA, Merriman TR, Michaud C, Miller M, Miller TR, Mock C, Mocumbi AO, Mokdad AA, Moran A, Mulholland K, Nair MN, Naldi L, Narayan KM, Nasseri K, Norman P, O'Donnell M, Omer SB, Ortblad K, Osborne R, Ozgediz D, Pahari B, Pandian JD, Rivero AP, Padilla RP, Perez-Ruiz F, Perico N, Phillips D, Pierce K, Pope CA 3rd, Porrini E, Pourmalek F, Raju M, Ranganathan D, Rehm JT, Rein DB, Remuzzi G, Rivara FP, Roberts T, De León FR, Rosenfeld LC, Rushton L, Sacco RL, Salomon JA, Sampson U, Sanman E, Schwebel DC, Segui-Gomez M, Shepard DS, Singh D, Singleton J, Sliwa K, Smith E, Steer A, Taylor JA, Thomas B, Tleyjeh IM, Towbin JA, Truelsen T, Undurraga EA, Venketasubramanian N, Vijayakumar L, Vos T, Wagner GR, Wang M, Wang W, Watt K, Weinstock MA, Weintraub R, Wilkinson JD, Woolf AD, Wulf S, Yeh PH, Yip P, Zabetian A, Zheng ZJ, Lopez AD, Murray CJ, AlMazroa MA, Memish ZA
Lancet 2012 Dec 15;380(9859):2095-128. doi: 10.1016/S0140-6736(12)61728-0. PMID: 23245604Free PMC Article
Johnson PC, Farnie MA
Dermatol Clin 1994 Jan;12(1):9-17. PMID: 8143388

Recent systematic reviews

Lorenz ZW, Nijhar S, Caufield-Noll C, Ghanem KG, Hamill MM
Sex Transm Dis 2023 Aug 1;50(8):472-478. Epub 2023 Apr 1 doi: 10.1097/OLQ.0000000000001813. PMID: 37010823
Trinh T, Leal AF, Mello MB, Taylor MM, Barrow R, Wi TE, Kamb ML
Sex Reprod Health Matters 2019 Dec;27(1):69-82. doi: 10.1080/26410397.2019.1691897. PMID: 31884900Free PMC Article
Arnesen L, Serruya S, Duran P
Rev Panam Salud Publica 2015 Jun;37(6):422-9. PMID: 26245178
Gomez GB, Kamb ML, Newman LM, Mark J, Broutet N, Hawkes SJ
Bull World Health Organ 2013 Mar 1;91(3):217-26. Epub 2013 Jan 17 doi: 10.2471/BLT.12.107623. PMID: 23476094Free PMC Article
Chau J, Atashband S, Chang E, Westerberg BD, Kozak FK
Int J Pediatr Otorhinolaryngol 2009 Jun;73(6):787-92. Epub 2009 Mar 24 doi: 10.1016/j.ijporl.2009.02.021. PMID: 19321207

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