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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

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
Walker GJ, Walker D, Molano Franco D, Grillo-Ardila CF
Cochrane Database Syst Rev 2019 Feb 15;2(2):CD012071. doi: 10.1002/14651858.CD012071.pub2. PMID: 30776081Free PMC Article
Rowe CR, Newberry DM, Jnah AJ
Adv Neonatal Care 2018 Dec;18(6):438-445. doi: 10.1097/ANC.0000000000000534. PMID: 30020089

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
Tsai S, Sun MY, Kuller JA, Rhee EHJ, Dotters-Katz S
Obstet Gynecol Surv 2019 Sep;74(9):557-564. doi: 10.1097/OGX.0000000000000713. PMID: 31830301
Rowe CR, Newberry DM, Jnah AJ
Adv Neonatal Care 2018 Dec;18(6):438-445. doi: 10.1097/ANC.0000000000000534. PMID: 30020089

Diagnosis

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
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

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
Tsai S, Sun MY, Kuller JA, Rhee EHJ, Dotters-Katz S
Obstet Gynecol Surv 2019 Sep;74(9):557-564. doi: 10.1097/OGX.0000000000000713. PMID: 31830301
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
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

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
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
The Lancet
Lancet 2018 Oct 6;392(10154):1168. doi: 10.1016/S0140-6736(18)32360-2. PMID: 30319097
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
Tsimis ME, Sheffield JS
Birth Defects Res 2017 Mar 15;109(5):347-352. doi: 10.1002/bdra.23562. PMID: 28398683

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
Bezerra MLMB, Fernandes FECV, de Oliveira Nunes JP, de Araújo Baltar SLSM, Randau KP
Emerg Infect Dis 2019 Aug;25(8):1469-1476. doi: 10.3201/eid2508.180298. PMID: 31310223Free 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
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: 23245604

Recent systematic reviews

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
Walker GJ, Walker D, Molano Franco D, Grillo-Ardila CF
Cochrane Database Syst Rev 2019 Feb 15;2(2):CD012071. doi: 10.1002/14651858.CD012071.pub2. PMID: 30776081Free 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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